75547-0  Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNANoninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNANoninvasive prenatal fetal aneuploidy and microdeletion panel: -: Pt: WBC.DNA+​Plas.cfDNA: -: Dosage of chromosome specific cf DNA  

PANEL HIERARCHY  (view this panel in the LForms viewer)

  LOINC#   LOINC Name R/O/C  Cardinality  Ex. UCUM Units 
  75547-0   Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNANoninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNANoninvasive prenatal fetal aneuploidy and microdeletion panel: -: Pt: WBC.DNA+​Plas.cfDNA: -: Dosage of chromosome specific cf DNA    
       43993-5   Age at deliveryAge at deliveryAge.at delivery: Time: Pt: ^Patient: Qn: R  
       18185-9   Gestational ageGestational ageGestational age: Time: Pt: ^Fetus: Qn: R   wk 
       75607-2   Paternal sample received QualitativePaternal sample received QualitativePaternal sample received: Find: Pt: ^Father: Ord: R    
       75605-6   Cell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNACell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNACell-free DNA.fetal/​Cell-free DNA.total: SFr: Pt: Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA R  
       75606-4   Cell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA NarrativeCell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA NarrativeCell-free DNA.fetal/​Cell-free DNA.total: Find: Pt: Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75604-9   Fetal sex in Cell-free+​Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNAFetal sex in Cell-free+​Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNAFetal sex: Find: Pt: WBC.DNA+​Plas.cfDNA: Nom: Dosage of chromosome specific cf DNA C    
       75560-3   Fetal Trisomy 21 prior risk [Likelihood] Based on maternal ageFetal Trisomy 21 prior risk [Likelihood] Based on maternal ageTrisomy 21 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age R   {risk} 
       75562-9   Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age NarrativeFetal Trisomy 21 prior risk [Likelihood] Based on maternal age NarrativeTrisomy 21 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age O    
       75561-1   Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal trisomy 21 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA R   {risk} 
       75563-7   Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal trisomy 21 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75564-5   Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal trisomy 21 risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA R    
       75565-2   Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 21 risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75554-6   Fetal Trisomy 18 prior risk [Likelihood] Based on maternal ageFetal Trisomy 18 prior risk [Likelihood] Based on maternal ageTrisomy 18 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age R   {risk} 
       75556-1   Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age NarrativeFetal Trisomy 18 prior risk [Likelihood] Based on maternal age NarrativeTrisomy 18 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age O    
       75555-3   Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal trisomy 18 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA R   {risk} 
       75557-9   Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal trisomy 18 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75558-7   Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal trisomy 18 risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA R    
       75559-5   Genetic counselor comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 18 risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75546-2   Fetal Trisomy 13 prior risk [Likelihood] Based on maternal ageFetal Trisomy 13 prior risk [Likelihood] Based on maternal ageTrisomy 13 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age R   {risk} 
       75550-4   Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age NarrativeFetal Trisomy 13 prior risk [Likelihood] Based on maternal age NarrativeTrisomy 13 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age O    
       75548-8   Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal trisomy 13 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA R   {risk} 
       75551-2   Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal trisomy 13 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75552-0   Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal trisomy 13 risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA R    
       75553-8   Genetic counselor comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 13 risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75566-0   Fetal Monosomy X prior risk [Likelihood] Based on maternal ageFetal Monosomy X prior risk [Likelihood] Based on maternal ageMonosomy X prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age R   {risk} 
       75568-6   Fetal Monosomy X prior risk [Likelihood] Based on maternal age NarrativeFetal Monosomy X prior risk [Likelihood] Based on maternal age NarrativeMonosomy X prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age O    
       75567-8   Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal monosomy X risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA R   {risk} 
       75569-4   Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal monosomy X risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75570-2   Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Monosomy X risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal monosomy X risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA R    
       75571-0   Genetic counselor comment on fetal Monosomy X risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Monosomy X risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Monosomy X risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75572-8   Fetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal triploidy risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA R    
       75573-6   Fetal Genetic counselor comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Genetic counselor comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Triploidy risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75574-4   Fetal 22q11.2 deletion prior risk [Likelihood] based on general population riskFetal 22q11.2 deletion prior risk [Likelihood] based on general population risk22q11.2 deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk C   {risk} 
       75575-1   Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk NarrativeFetal 22q11.2 deletion prior risk [Likelihood] based on general population risk Narrative22q11.2 deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk O    
       75576-9   Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 22q11.2 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA C   {risk} 
       75577-7   Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 22q11.2 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75578-5   Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 22q11.2 deletion risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA C    
       75579-3   Genetic counselor comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 22q11.2 deletion risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75598-3   Fetal 1p36 deletion prior risk [Likelihood] based on general population riskFetal 1p36 deletion prior risk [Likelihood] based on general population risk1p36 deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk C   {risk} 
       75599-1   Fetal 1p36 deletion prior risk [Likelihood] based on general population risk NarrativeFetal 1p36 deletion prior risk [Likelihood] based on general population risk Narrative1p36 deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk O    
       75600-7   Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 1p36 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA C   {risk} 
       75601-5   Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 1p36 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75602-3   Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 1p36 deletion risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA C    
       75603-1   Genetic counselor comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 1p36 deletion risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75586-8   Fetal Angelman syndrome prior risk [Likelihood] based on general population riskFetal Angelman syndrome prior risk [Likelihood] based on general population riskAngelman syndrome prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk C   {risk} 
       75587-6   Fetal Angelman syndrome prior risk [Likelihood] based on general population risk NarrativeFetal Angelman syndrome prior risk [Likelihood] based on general population risk NarrativeAngelman syndrome prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk O    
       75588-4   Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Angelman syndrome risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA C   {risk} 
       75589-2   Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Angelman syndrome risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75590-0   Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Angelman syndrome risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA C    
       75591-8   Genetic counselor comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Angelman syndrome risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75592-6   Fetal 5p deletion prior risk [Likelihood] based on general population riskFetal 5p deletion prior risk [Likelihood] based on general population risk5p deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk C   {risk} 
       75593-4   Fetal 5p deletion prior risk [Likelihood] based on general population risk NarrativeFetal 5p deletion prior risk [Likelihood] based on general population risk Narrative5p deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk O    
       75594-2   Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 5p deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 5p deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA C   {risk} 
       75595-9   Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 5p deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 5p deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75596-7   Fetal 5p deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 5p deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 5p deletion risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA C    
       75597-5   Genetic counselor comment on fetal 5p deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 5p deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 5p deletion risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75580-1   Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population riskFetal Prader-Willi syndrome prior risk [Likelihood] based on general population riskPrader-Willi syndrome prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk C   {risk} 
       75581-9   Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk NarrativeFetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk NarrativePrader-Willi syndrome prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk O    
       75582-7   Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Prader-Willi syndrome risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA C   {risk} 
       75583-5   Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Prader-Willi syndrome risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA O    
       75584-3   Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Prader-Willi syndrome risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA C    
       75585-0   Genetic counselor comment on fetal Prader-Willi syndrome risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Prader-Willi syndrome risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Prader-Willi syndrome risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA C    
       75544-7   Noninvasive prenatal fetal aneuploidy and microdeletion overall interpretation based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNANoninvasive prenatal fetal aneuploidy and microdeletion overall interpretation based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNANoninvasive prenatal fetal aneuploidy and microdeletion overall interpretation: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: R    
       75545-4   Genetic counselor comment on overall fetal aneuploidy and microdeletion risk [Text] based on Plasma cell-free+​WBC DNAGenetic counselor comment on overall fetal aneuploidy and microdeletion risk [Text] based on Plasma cell-free+​WBC DNAGenetic counselor comment on overall fetal aneuploidy and microdeletion risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: C    
       75608-0   Citation [Bibliographic Citation] in Reference lab test NarrativeCitation [Bibliographic Citation] in Reference lab test NarrativeCitation: Bib: Pt: Reference lab test: Nar: O    
       68989-3   Performing laboratory [Address]Performing laboratory [Address]Performing laboratory: Addr: Pt: Facility: Nom: R    
       75549-6   Performing laboratory phone numberPerforming laboratory phone numberPerforming laboratory phone number: Tele: Pt: Facility: Nom: R    
 

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Noninvasive prenatal fetal aneuploidy and microdeletion panel  Pt  WBC.DNA+Plas.cfDNA  Dosage of chromosome specific cf DNA
  Long Common Name:  Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  Short Name:  NIP aneu microdel pnl WBC.DNA+cfDNA
  Display Name:  Noninvasive prenatal fetal aneuploidy and microdel panel Dosage of chromosome-specific cfDNA (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  Noninvasive prenatal screening is used to assess fetal risk for various genetic conditions without requiring invasive maternal procedures such as amniocentesis or chorionic villus sampling. Cell-free DNA (cfDNA) in maternal plasma comes from both fetal and maternal sources, and depending on the technology used, this DNA can be used to determine fetal risk for a variety of conditions including aneuploidy (e.g., Trisomy 21, Monosomy X) and microdeletions (e.g., 22q11.2 deletion). This panel was developed for, but is not limited in use to, Natera's Panorama prenatal test, which incorporates SNP analysis of maternal white blood cell DNA with combined maternal and fetal cfDNA SNP analysis. Natera's proprietary informatics analysis method (NATUS) effectively subtracts the maternal genotype from the cfDNA genotype and analyzes the remaining fetal cfDNA genotype for certain aneuploidies and microdeletion syndromes.
 
 

BASIC ATTRIBUTES
  Class/Type: PANEL.MOLPATH/Lab
  Panel Type: Panel
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Order
  Status: Active

PARTS

Part Type    Part No.  Part Name   
Component   LP185919-0  Noninvasive prenatal fetal aneuploidy and microdeletion panel 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7747-1 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP21059-8  Panel 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  无创性产前胎儿非整倍体性与染色体微缺失组套:-:时间点:白细胞.DNA+​血浆.cfDNA:-:染色体特异性 cfDNA 剂量测定无创性产前胎儿非整倍体性与染色体微缺失组套:-:时间点:白细胞.DNA+​血浆.cfDNA:-:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Noninvasive prenatal fetal aneuploidy and microdeletion panel:-:Pt:WBC.DNA+​Plas.cfDNA:-:Dosage of chromosome specific cf DNANoninvasive prenatal fetal aneuploidy and microdeletion panel:-:Pt:WBC.DNA+​Plas.cfDNA:-:Dosage of chromosome specific cf DNAAneuploïdie et microdélétion foetale prénatale non invasive panel [-] Leucocytes ADN+​Plasma avec ADN libre circulant ; - ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Microdelezione e aneuploidia fetale prenatale non invasiva, panel:-:Pt:WBC.DNA+​Plas.cfDNA:-:Dosaggio di DNA libero fetale circolante cromosoma specificoMicrodelezione e aneuploidia fetale prenatale non invasiva, panel:-:Pt:WBC.DNA+​Plas.cfDNA:-:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Panel prenatal no invasivo de aneuploidía y microdeleción fetal:Propiedades mixtas (sólo paneles):Punto temporal:ADN en plasma libre de células y leucocitos:-:Dosificación de ADN ccf de cromosoma específicoPanel prenatal no invasivo de aneuploidía y microdeleción fetal:Propiedades mixtas (sólo paneles):Punto temporal:ADN en plasma libre de células y leucocitos:-:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Panel.molpath Random
  Chromosomes Panl Spec
  Leukocytes Pl WBC.DNA+cfDNA
  Molecular pathology Plasma WBCs
  MOLPATH Plsm White blood cells
  NIP aneu microdel pnl Pnl  
  Pan Point in time  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:21 PM
  Long Common Name: Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  Shortname: NIP aneu microdel pnl WBC.DNA+cfDNA
  Fully Specified Name: Noninvasive prenatal fetal aneuploidy and microdeletion panel: -: Pt: WBC.DNA+Plas.cfDNA: -: Dosage of chromosome specific cf DNA
     
  Component Word Count: 7
  ID: 77235
  # of Panel Elements: 68
  Status (Raw): ACTIVE



Selected information about each LOINC that is part of this panel



43993-5   Age at deliveryAge at deliveryAge.at delivery: Time: Pt: ^Patient: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Age.at delivery  Time  Pt  ^Patient  Qn 
  Long Common Name:  Age at delivery
  Short Name:  Age at delivery

OBSERVATION REQUIRED IN PANEL
Required

TYPE OF ENTRY
Question

BASIC ATTRIBUTES
  Class/Type: OB.US/Clinical
  Common Lab Results Rank: #1725
  Common SI Lab Results Rank: #1725
  First Released in Version: 2.17
  Last Updated in Version: 2.40
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  35086-8 Second trimester triple maternal screen panel - Serum or Plasma
  48798-3 First trimester maternal screen panel - Serum or Plasma
  48799-1 Second trimester penta maternal screen panel - Serum or Plasma
  48800-7 Second trimester quad maternal screen panel - Serum or Plasma
  48802-3 Alpha-1-Fetoprotein panel - Serum or Plasma
  49085-4 First and Second trimester integrated maternal screen panel
  49086-2 First trimester maternal screen with nuchal translucency panel
  49087-0 Maternal screen clinical predictors panel
  58735-2 Alpha-1-Fetoprotein panel - Amniotic fluid
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP36652-3  Age.at delivery   [Age at delivery] 
Property   LP6879-3  Time   [Time (e.g. seconds)] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6985-8  Patient 
Scale   LP7753-9  Qn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  年龄.分娩时:时间:时间点:^患者:定量型:年龄.分娩时:时间:时间点:^患者:定量型:
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Età.al parto:Tempo:Pt:^Paziente:Qn:Età.al parto:Tempo:Pt:^Paziente:Qn:
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Idade.no momento do parto:Tempo:Pt:^Paciente:Qn:Idade.no momento do parto:Tempo:Pt:^Paciente:Qn:
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Возраст.в родах:Время:ТчкВрм:^Пациент:Колич:Возраст.в родах:Время:ТчкВрм:^Пациент:Колич:
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Yaş.doğumda:Süre:Zmlı:^Hasta:Kant:Yaş.doğumda:Süre:Zmlı:^Hasta:Kant:

RELATED NAMES
  Age at delivery Obstetrics Quant
  OBSTERICAL Point in time Quantitative
  OBSTERICAL.ULTRASOUND QNT Random
  Obstetrical Quan  

EXAMPLE UNITS
  Unit  Source Type
  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit: 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:21 PM
  Attachment Units Required: N
  Long Common Name: Age at delivery
  Shortname: Age at delivery
  Fully Specified Name: Age.at delivery: Time: Pt: ^Patient: Qn:
     
  Component Word Count: 3
  ID: 37164
  Status (Raw): ACTIVE


18185-9   Gestational ageGestational ageGestational age: Time: Pt: ^Fetus: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Gestational age  Time  Pt  ^Fetus  Qn 
  Long Common Name:  Gestational age
  Short Name:  GA

PART DEFINITION/DESCRIPTION(S)
  Part: Gestational age
  The age of the conceptus, beginning from the time of fertilization. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last menstruation which is about 2 weeks before ovulation and fertilization.
 
 

MAPPING GUIDANCE
  Description: This term is preferred over the two separate terms for gestational age in weeks [LOINC: 49051-6] and in days [LOINC: 49052-4] so that only one variable is used.
 
 

OBSERVATION REQUIRED IN PANEL
Required

TYPE OF ENTRY
Question

BASIC ATTRIBUTES
  Class/Type: OB.US/Clinical
  Common Lab Results Rank: #564
  Common SI Lab Results Rank: #564
  First Released in Version: 1.0l
  Last Updated in Version: 2.40
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  35086-8 Second trimester triple maternal screen panel - Serum or Plasma
  48798-3 First trimester maternal screen panel - Serum or Plasma
  48799-1 Second trimester penta maternal screen panel - Serum or Plasma
  48800-7 Second trimester quad maternal screen panel - Serum or Plasma
  48802-3 Alpha-1-Fetoprotein panel - Serum or Plasma
  49085-4 First and Second trimester integrated maternal screen panel
  49086-2 First trimester maternal screen with nuchal translucency panel
  49087-0 Maternal screen clinical predictors panel
  58735-2 Alpha-1-Fetoprotein panel - Amniotic fluid
  75199-0 Congenital syphilis case investigation and report panel [CDC.CS]
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  76478-7 Acetylcholinesterase panel - Amniotic fluid
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50112-8  Gestational ageTime^Fetus

PARTS

Part Type    Part No.  Part Name   
Component   LP19507-0  Gestational age 
Property   LP6879-3  Time   [Time (e.g. seconds)] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  孕龄:时间:时间点:^胎儿:定量型:孕龄:时间:时间点:^胎儿:定量型:
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  zwangerschapsduur:tijd:moment:^foetus:kwantitatief:zwangerschapsduur:tijd:moment:^foetus:kwantitatief:
  Estonian (ESTONIA)  (From: Regenstrief-generated full translation based on part translation provided by Estonian E-Health Foundation)
 
  Raseduse kestus:Aeg:Pt:^loode:Qn:Raseduse kestus:Aeg:Pt:^loode:Qn:
  French (BELGIUM)  (From: Regenstrief-generated full translation based on part translation provided by Jean M. Prevost, MD, Biopathology)
 
  Age gestationnel:Durée:Temps ponctuel:^Foetus:Quantitatif:Age gestationnel:Durée:Temps ponctuel:^Foetus:Quantitatif:
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Gestational age:Time:Pt:^Fetus:Qn:Gestational age:Time:Pt:^Fetus:Qn:Âge gestationnel [Temps] Concerne le foetus ; Numérique
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Età gestazionale:Tempo:Pt:^feto:Qn:Età gestazionale:Tempo:Pt:^feto:Qn:
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Idade gestacional:Tempo:Pt:^Feto:Qn:Idade gestacional:Tempo:Pt:^Feto:Qn:
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  Гестационный возраст:Время:ТчкВрм:^Плод:Колич:Гестационный возраст:Время:ТчкВрм:^Плод:Колич:
  Spanish (ARGENTINA)  (From: Conceptum Medical Terminology Center)
 
  edad gestacional:tiempo:punto en el tiempo:^feto:cuantitativo:edad gestacional:tiempo:punto en el tiempo:^feto:cuantitativo:
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Edad gestacional:Tiempo:Punto temporal:^Feto:Qn:Edad gestacional:Tiempo:Punto temporal:^Feto:Qn:
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Doğurma yaşı:Süre:Zmlı:^Fetus:Kant:Doğurma yaşı:Süre:Zmlı:^Fetus:Kant:

RELATED NAMES
  Fetal Obstetrical Quant
  GA Obstetrics Quantitative
  Gest Point in time Random
  Gestation Prenatal  
  OBSTERICAL QNT  
  OBSTERICAL.ULTRASOUND Quan  

EXAMPLE UNITS
  Unit  Source Type
  week  REGENSTRIEF 
  wk  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  REGENSTRIEF 
  Unit:  week 
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  wk 

RELATED CODES
Code System Code Code Text Code Version
   https://www.phenxtoolkit.org   PX241501100100   PX241501_Fetal_Growth_Assessment_Estimated_Weight_Medical_Record_Abstraction_Gestational_Age_Weeks   

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Gestational age
  Shortname: GA
  Fully Specified Name: Gestational age: Time: Pt: ^Fetus: Qn:
     
  Component Word Count: 2
  ID: 9042
  Status (Raw): ACTIVE


75607-2   Paternal sample received QualitativePaternal sample received QualitativePaternal sample received: Find: Pt: ^Father: Ord:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Paternal sample received  Find  Pt  ^Father  Ord 
  Long Common Name:  Paternal sample received Qualitative
  Short Name:  Pat sample rec Father Ql
  Display Name:  Paternal Sample Received

PART DEFINITION/DESCRIPTION(S)
  Part: Paternal sample received
  Paternal sample received is an indicator of whether a specimen from the father was sent to the testing laboratory. Paternal and maternal samples are relevant for prenatal fetal or postnatal testing for genetic disorders or paternity.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Observation
  Status: Active

EXAMPLE ANSWER LIST    (LL361-7)  
 
Source: Regenstrief Institute
  SEQ#        Answer        Answer ID    
  1       Yes
http://snomed.info/sct ©: 373066001 Yes (qualifier value)    
  LA33-6  
  2       No
http://snomed.info/sct ©: 373067005 No (qualifier value)    
  LA32-8  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185911-7  Paternal sample received 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP69299-3  Father 
Scale   LP7751-3  Ord 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  已收到父方样本:发现:时间点:^父亲:序数型:已收到父方样本:发现:时间点:^父亲:序数型:
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Paternal sample received:Find:Pt:^Father:Ord:Paternal sample received:Find:Pt:^Father:Ord:Échantillon du père reçu [Recherche] Père ; Qualitatif
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Campione paterno ricevuto:Osservazione:Pt:^padre:Ord:Campione paterno ricevuto:Osservazione:Pt:^padre:Ord:
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Muestra paterna recibida:Hallazgo:Punto temporal:^Padre:Ord:Muestra paterna recibida:Hallazgo:Punto temporal:^Padre:Ord:
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  Paternal örnek alınmış:Bulgu:Zmlı:^baba:Srl:Paternal örnek alınmış:Bulgu:Zmlı:^baba:Srl:

RELATED NAMES
  Finding Pat sample rec Random
  Findings Point in time Screen
  Molecular pathology QL  
  MOLPATH Qual  
  Ordinal Qualitative  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Paternal sample received Qualitative
  Shortname: Pat sample rec Father Ql
  Fully Specified Name: Paternal sample received: Find: Pt: ^Father: Ord:
     
  Component Word Count: 3
  ID: 77295
  Status (Raw): ACTIVE


75605-6   Cell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNACell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNACell-free DNA.fetal/​Cell-free DNA.total: SFr: Pt: Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Cell-free DNA.fetal/Cell-free DNA.total  SFr  Pt  Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA
  Short Name:  cfDNA.fet/cfDNA.total SFr Fetus
  Display Name:  Cell-free DNA.fetal/Cell-free DNA.total Dosage of chromosome-specific cfDNA (cfDNA) [Molar fraction]

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185863-0  Cell-free DNA.fetal 
     Divisors   LP185865-5  Cell-free DNA.total 
Property   LP6866-0  SFr   [Substance Fraction] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185795-4  Plas.cfDNA   [Plasma cell-free DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20769-3  Free 
Fragments for synonyms   LP21089-5  Total 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  cfDNA.胎儿/​cfDNA.总计:物质的量分数:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定cfDNA.胎儿/​cfDNA.总计:物质的量分数:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Cell-free DNA.fetal/​Cell-free DNA.total:SFr:Pt:Plas.cfDNA:Qn:Dosage of chromosome specific cf DNACell-free DNA.fetal/​Cell-free DNA.total:SFr:Pt:Plas.cfDNA:Qn:Dosage of chromosome specific cf DNAADN libre foetal/​ADN libre total [Fraction molaire] Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  DNA libero circolante.fetale/​DNA libero circolante.totale:SFr:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specificoDNA libero circolante.fetale/​DNA libero circolante.totale:SFr:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  ADN fetal libre de células/​ADN total libre de células:Fraccion de sustancia:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específicoADN fetal libre de células/​ADN total libre de células:Fraccion de sustancia:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  cfDNA.fet Non-protein bound Quantitative
  cfDNA.total Percent Random
  Chromosom Pl Spec
  Chromosomes Plasma Substance fraction
  Deoxyribonucleic acid Plsm Tot
  Fetal fraction Point in time Totl
  FR QNT  
  Molecular pathology Quan  
  MOLPATH Quant  

EXAMPLE UNITS
  Unit  Source Type
  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit: 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA
  Shortname: cfDNA.fet/cfDNA.total SFr Fetus
  Fully Specified Name: Cell-free DNA.fetal/Cell-free DNA.total: SFr: Pt: Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77293
  Status (Raw): ACTIVE


75606-4   Cell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA NarrativeCell-free DNA.fetal/​Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA NarrativeCell-free DNA.fetal/​Cell-free DNA.total: Find: Pt: Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Cell-free DNA.fetal/Cell-free DNA.total  Find  Pt  Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  cfDNA.fet/cfDNA.total Plas.cfDNA
  Display Name:  Cell-free DNA.fetal/Cell-free DNA.total Dosage of chromosome-specific cfDNA Nar (cfDNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185863-0  Cell-free DNA.fetal 
     Divisors   LP185865-5  Cell-free DNA.total 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185795-4  Plas.cfDNA   [Plasma cell-free DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20769-3  Free 
Fragments for synonyms   LP21089-5  Total 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  cfDNA.胎儿/​cfDNA.总计:发现:时间点:血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定cfDNA.胎儿/​cfDNA.总计:发现:时间点:血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Cell-free DNA.fetal/​Cell-free DNA.total:Find:Pt:Plas.cfDNA:Nar:Dosage of chromosome specific cf DNACell-free DNA.fetal/​Cell-free DNA.total:Find:Pt:Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAADN libre foetal/​ADN libre total [Recherche] Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  DNA libero circolante.fetale/​DNA libero circolante.totale:Osservazione:Pt:Plasma.DNA libero circolante:Nar:Dosaggio di DNA libero fetale circolante cromosoma specificoDNA libero circolante.fetale/​DNA libero circolante.totale:Osservazione:Pt:Plasma.DNA libero circolante:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  ADN fetal libre de células/​ADN total libre de células:Hallazgo:Punto temporal:ADN en plasma libre de células:Narrativo:Dosificación de ADN ccf de cromosoma específicoADN fetal libre de células/​ADN total libre de células:Hallazgo:Punto temporal:ADN en plasma libre de células:Narrativo:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  cfDNA.fet FR Point in time
  cfDNA.total Molecular pathology Random
  Chromosom MOLPATH Report
  Chromosomes Narrative Spec
  Deoxyribonucleic acid Non-protein bound Tot
  Fetal fraction Pl Totl
  Finding Plasma  
  Findings Plsm  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: cfDNA.fet/cfDNA.total Plas.cfDNA
  Fully Specified Name: Cell-free DNA.fetal/Cell-free DNA.total: Find: Pt: Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77294
  Status (Raw): ACTIVE


75604-9   Fetal sex in Cell-free+​Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNAFetal sex in Cell-free+​Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNAFetal sex: Find: Pt: WBC.DNA+​Plas.cfDNA: Nom: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal sex  Find  Pt  WBC.DNA+Plas.cfDNA  Nom  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal sex in Cell-free+Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNA
  Short Name:  Fet sex cfDNA+DNA.Mat
  Display Name:  Sex Dosage of chromosome-specific cfDNA Nom (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

CONDITION FOR INCLUSION
Fetal sex will be included on the report if requested by the parent(s).

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL2903-4)  
 
Source: Laboratory Corporation of America
  SEQ#        Answer        Answer ID    
  1       Female fetus       LA21135-1  
  2       Male fetus       LA21134-4  
  3       No result       LA21136-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP410743-1  Fetal sex 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7750-5  Nom 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP345158-2  Sex 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Sex:Find:Pt:WBC.DNA+​Plas.cfDNA:Nom:Dosage of chromosome specific cf DNASex:Find:Pt:WBC.DNA+​Plas.cfDNA:Nom:Dosage of chromosome specific cf DNASexe [Recherche] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat nominal ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom MOLPATH Spec
  Chromosomes Nominal WBC.DNA+cfDNA
  Finding Pl WBCs
  Findings Plasma White blood cells
  Gender Plsm  
  Leukocytes Point in time  
  Molecular pathology Random  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Fetal sex in Cell-free+Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNA
  Shortname: Fet sex cfDNA+DNA.Mat
  Fully Specified Name: Fetal sex: Find: Pt: WBC.DNA+Plas.cfDNA: Nom: Dosage of chromosome specific cf DNA
     
  Component Word Count: 2
  ID: 77292
  Status (Raw): ACTIVE


75560-3   Fetal Trisomy 21 prior risk [Likelihood] Based on maternal ageFetal Trisomy 21 prior risk [Likelihood] Based on maternal ageTrisomy 21 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Trisomy 21 prior risk  Likelihood  Pt  ^Fetus  Qn  Based on maternal age
  Long Common Name:  Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age
  Short Name:  Fet Ts 21 prior risk from Mat age
  Display Name:  Trisomy 21 prior risk Based on maternal age Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP186092-5  Trisomy 21 prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185800-2  Based on maternal age 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70386-5  Trisomy 21 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  三体型 21 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法三体型 21 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 21 prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageTrisomy 21 prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageRisque prédominant trisomie 21 [Probabilité] Concerne le foetus ; Numérique ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Trisomia 21, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età maternaTrisomia 21, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de Trisomía 21:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad maternaRiesgo previo de Trisomía 21:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna

RELATED NAMES
  Down syndrome Point in time Risk
  Fetal QNT Ts
  from Mat age Quan Ts 21 prior risk
  Molecular pathology Quant  
  MOLPATH Quantitative  
  MOLPATH.TRISOMY Random  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age
  Shortname: Fet Ts 21 prior risk from Mat age
  Fully Specified Name: Trisomy 21 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age
     
  Component Word Count: 4
  ID: 77248
  Status (Raw): ACTIVE


75562-9   Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age NarrativeFetal Trisomy 21 prior risk [Likelihood] Based on maternal age NarrativeTrisomy 21 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Trisomy 21 prior risk  Likelihood  Pt  ^Fetus  Nar  Based on maternal age
  Long Common Name:  Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age Narrative
  Short Name:  Fet Ts 21 prior risk from Mat age
  Display Name:  Trisomy 21 prior risk Based on maternal age Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP186092-5  Trisomy 21 prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185800-2  Based on maternal age 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70386-5  Trisomy 21 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  三体型 21 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法三体型 21 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 21 prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageTrisomy 21 prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageRisque prédominant trisomie 21 [Probabilité] Concerne le foetus ; Résultat textuel ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Trisomia 21, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età maternaTrisomia 21, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de Trisomía 21:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad maternaRiesgo previo de Trisomía 21:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna

RELATED NAMES
  Down syndrome MOLPATH.TRISOMY Risk
  Fetal Narrative Ts
  from Mat age Point in time Ts 21 prior risk
  Molecular pathology Random  
  MOLPATH Report  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age Narrative
  Shortname: Fet Ts 21 prior risk from Mat age
  Fully Specified Name: Trisomy 21 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age
     
  Component Word Count: 4
  ID: 77250
  Status (Raw): ACTIVE


75561-1   Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal trisomy 21 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 21 risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet Ts 21 risk WBC.DNA+cfDNA Qn
  Display Name:  Trisomy 21 risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP410748-0  Fetal trisomy 21 risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70386-5  Trisomy 21 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 21 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNATrisomy 21 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque Trisomie 21 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom MOLPATH.TRISOMY Random
  Chromosomes Pl Risk
  Down syndrome Plasma Spec
  Downs Plsm Ts
  Down's syndrome Point in time Ts 21 risk
  ds QNT WBC.DNA+cfDNA
  Leukocytes Quan WBCs
  Molecular pathology Quant White blood cells
  MOLPATH Quantitative  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet Ts 21 risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal trisomy 21 risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77249
  Status (Raw): ACTIVE


75563-7   Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal trisomy 21 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 21 risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Fet Ts 21 risk WBC.DNA+cfDNA
  Display Name:  Trisomy 21 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP410748-0  Fetal trisomy 21 risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70386-5  Trisomy 21 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 21 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNATrisomy 21 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque Trisomie 21 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom MOLPATH.TRISOMY Spec
  Chromosomes Narrative Ts
  Down syndrome Pl Ts 21 risk
  Downs Plasma WBC.DNA+cfDNA
  Down's syndrome Plsm WBCs
  ds Point in time White blood cells
  Leukocytes Random  
  Molecular pathology Report  
  MOLPATH Risk  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Fet Ts 21 risk WBC.DNA+cfDNA
  Fully Specified Name: Fetal trisomy 21 risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77251
  Status (Raw): ACTIVE


75564-5   Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal trisomy 21 risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 21 risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet Ts 21 risk WBC.DNA+cfDNA Ql
  Display Name:  Trisomy 21 risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP410748-0  Fetal trisomy 21 risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70386-5  Trisomy 21 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 21 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNATrisomy 21 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque Trisomie 21 [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom Leukocytes Qualitative
  Chromosomes Molecular pathology Random
  Down syndrome MOLPATH Screen
  Downs MOLPATH.TRISOMY Spec
  Down's syndrome Ordinal Ts
  ds Pl Ts 21 risk
  Impression Plasma WBC.DNA+cfDNA
  Impression/interpretation of study Plsm WBCs
  Impressions Point in time White blood cells
  Interp QL  
  Interpretation Qual  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet Ts 21 risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal trisomy 21 risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77252
  Status (Raw): ACTIVE


75565-2   Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 21 risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal Trisomy 21 risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet Ts 21 risk
  Display Name:  Genetic counselor comment on Trisomy 21 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal Trisomy 21 risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal Trisomy 21 risk
  Trisomy 21 risk refers to the fetus's risk of having trisomy 21. The risk can be estimated based on maternal age, prenatal genetic testing of fetal DNA, various maternal lab tests, and fetal nuchal translucency or nuchal fold measurements. Trisomy 21, also called Down syndrome, is caused by the presence of three copies of either the entire chromosome 21 or a crucial region of chromosome 21 in each cell rather than two. Down syndrome is associated with cognitive delay, various forms of congenital heart disease, hearing loss, and leukemia, and characteristic physical features. The risk for Down syndrome increases with increasing maternal age. The general population risk of Down syndrome is 1 out of 650 to 1,000 live births; for a 30-year-old woman, the risk is 1 out of 1,000, while for a 40-year-old woman it nears 1 out of 100. [OMIM: 190685]
 
 

CONDITION FOR INCLUSION
If fetal trisomy 21 risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185987-7  Genetic counselor comment on fetal Trisomy 21 risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70386-5  Trisomy 21 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  关于三体型 21 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定关于三体型 21 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on Trisomy 21 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on Trisomy 21 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque trisomie 21 commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Commento di consulente genetico su rischio Trisomia 21:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specificoCommento di consulente genetico su rischio Trisomia 21:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Comentario de consejo genético en riesgo de Trisomía 21:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específicoComentario de consejo genético en riesgo de Trisomía 21:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Gen couns comm fet Ts 21 risk Random
  Chromosomes Genetics Remarks
  cmmt Genomic Report
  cmnt Leukocytes Spec
  Com Molecular pathology Text
  Comm MOLPATH Ts
  Comments MOLPATH.TRISOMY Ts 21 risk
  Commt Narrative WBC.DNA+cfDNA
  Down syndrome Pl WBCs
  Downs Plasma White blood cells
  Down's syndrome Plsm  
  ds Point in time  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:22 PM
  Long Common Name: Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet Ts 21 risk
  Fully Specified Name: Genetic counselor comment on fetal Trisomy 21 risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77253
  Status (Raw): ACTIVE


75554-6   Fetal Trisomy 18 prior risk [Likelihood] Based on maternal ageFetal Trisomy 18 prior risk [Likelihood] Based on maternal ageTrisomy 18 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Trisomy 18 prior risk  Likelihood  Pt  ^Fetus  Qn  Based on maternal age
  Long Common Name:  Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age
  Short Name:  Fet Ts 18 prior risk from Mat age
  Display Name:  Trisomy 18 prior risk Based on maternal age Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP186094-1  Trisomy 18 prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185800-2  Based on maternal age 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70387-3  Trisomy 18 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  三体型 18 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法三体型 18 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 18 prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageTrisomy 18 prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageRisque prédominant trisomie 18 [Probabilité] Concerne le foetus ; Numérique ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Trisomia 18, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età maternaTrisomia 18, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de Trisomía 18:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad maternaRiesgo previo de Trisomía 18:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna

RELATED NAMES
  Edward syndrome Point in time Risk
  Fetal QNT Ts
  from Mat age Quan Ts 18 prior risk
  Molecular pathology Quant  
  MOLPATH Quantitative  
  MOLPATH.TRISOMY Random  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age
  Shortname: Fet Ts 18 prior risk from Mat age
  Fully Specified Name: Trisomy 18 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age
     
  Component Word Count: 4
  ID: 77242
  Status (Raw): ACTIVE


75556-1   Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age NarrativeFetal Trisomy 18 prior risk [Likelihood] Based on maternal age NarrativeTrisomy 18 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Trisomy 18 prior risk  Likelihood  Pt  ^Fetus  Nar  Based on maternal age
  Long Common Name:  Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age Narrative
  Short Name:  Fet Ts 18 prior risk from Mat age
  Display Name:  Trisomy 18 prior risk Based on maternal age Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP186094-1  Trisomy 18 prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185800-2  Based on maternal age 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70387-3  Trisomy 18 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  三体型 18 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法三体型 18 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 18 prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageTrisomy 18 prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageRisque prédominant trisomie 18 [Probabilité] Concerne le foetus ; Résultat textuel ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Trisomia 18, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età maternaTrisomia 18, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de Trisomía 18:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad maternaRiesgo previo de Trisomía 18:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna

RELATED NAMES
  Edward syndrome MOLPATH.TRISOMY Risk
  Fetal Narrative Ts
  from Mat age Point in time Ts 18 prior risk
  Molecular pathology Random  
  MOLPATH Report  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age Narrative
  Shortname: Fet Ts 18 prior risk from Mat age
  Fully Specified Name: Trisomy 18 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age
     
  Component Word Count: 4
  ID: 77244
  Status (Raw): ACTIVE


75555-3   Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal trisomy 18 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 18 risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet Ts 18 risk WBC.DNA+cfDNA Qn
  Display Name:  Trisomy 18 risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP410749-8  Fetal trisomy 18 risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70387-3  Trisomy 18 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 18 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNATrisomy 18 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque Trisomie 18 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom Plsm T18 risk
  Chromosomes Point in time Ts
  Edward syndrome QNT Ts 18 risk
  Leukocytes Quan WBC.DNA+cfDNA
  Molecular pathology Quant WBCs
  MOLPATH Quantitative White blood cells
  MOLPATH.TRISOMY Random  
  Pl Risk  
  Plasma Spec  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet Ts 18 risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal trisomy 18 risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77243
  Status (Raw): ACTIVE


75557-9   Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal trisomy 18 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 18 risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Fet Ts 18 risk WBC.DNA+cfDNA
  Display Name:  Trisomy 18 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP410749-8  Fetal trisomy 18 risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70387-3  Trisomy 18 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 18 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNATrisomy 18 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque Trisomie 18 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom Pl T18 risk
  Chromosomes Plasma Ts
  Edward syndrome Plsm Ts 18 risk
  Leukocytes Point in time WBC.DNA+cfDNA
  Molecular pathology Random WBCs
  MOLPATH Report White blood cells
  MOLPATH.TRISOMY Risk  
  Narrative Spec  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Fet Ts 18 risk WBC.DNA+cfDNA
  Fully Specified Name: Fetal trisomy 18 risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77245
  Status (Raw): ACTIVE


75558-7   Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal trisomy 18 risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 18 risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet Ts 18 risk WBC.DNA+cfDNA Ql
  Display Name:  Trisomy 18 risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP410749-8  Fetal trisomy 18 risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70387-3  Trisomy 18 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 18 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNATrisomy 18 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque Trisomie 18 [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom MOLPATH Random
  Chromosomes MOLPATH.TRISOMY Screen
  Edward syndrome Ordinal Spec
  Impression Pl T18 risk
  Impression/interpretation of study Plasma Ts
  Impressions Plsm Ts 18 risk
  Interp Point in time WBC.DNA+cfDNA
  Interpretation QL WBCs
  Leukocytes Qual White blood cells
  Molecular pathology Qualitative  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet Ts 18 risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal trisomy 18 risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77246
  Status (Raw): ACTIVE


75559-5   Genetic counselor comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 18 risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal Trisomy 18 risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet Ts 18 risk
  Display Name:  Genetic counselor comment on Trisomy 18 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal Trisomy 18 risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal Trisomy 18 risk
  Trisomy 18 risk refers to the fetus's risk of having trisomy 18. The risk can be estimated based on maternal age and prenatal genetic testing of fetal DNA.Trisomy 18, also called Edwards syndrome, is caused by the presence of three copies of chromosome 18 in each cell rather than two. Edwards syndrome is associated with intrauterine growth retardation and fetal demise, and liveborn infants with Edwards syndrome typically have low birth weight, congenital heart disease, and characteristic physical features. Less than 10% of liveborn infants with Edwards syndrome live past their first year. The general population risk of Edwards syndrome is 1 out of 5,000 live births, and the risk for Edwards syndrome increases with increasing maternal age. [GHR condition: trisomy-18]
 
 

CONDITION FOR INCLUSION
If fetal trisomy 18 risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185986-9  Genetic counselor comment on fetal Trisomy 18 risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70387-3  Trisomy 18 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  关于三体型 18 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定关于三体型 18 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on Trisomy 18 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on Trisomy 18 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque trisomie 18 commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Commento di consulente genetico su rischio Trisomia 18:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specificoCommento di consulente genetico su rischio Trisomia 18:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Comentario de consejo genético en riesgo de Trisomía 18:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específicoComentario de consejo genético en riesgo de Trisomía 18:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Genomic Remarks
  Chromosomes Leukocytes Report
  cmmt Molecular pathology Spec
  cmnt MOLPATH T18 risk
  Com MOLPATH.TRISOMY Text
  Comm Narrative Ts
  Comments Pl Ts 18 risk
  Commt Plasma WBC.DNA+cfDNA
  Edward syndrome Plsm WBCs
  Gen couns comm fet Ts 18 risk Point in time White blood cells
  Genetics Random  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Genetic counselor comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet Ts 18 risk
  Fully Specified Name: Genetic counselor comment on fetal Trisomy 18 risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77247
  Status (Raw): ACTIVE


75546-2   Fetal Trisomy 13 prior risk [Likelihood] Based on maternal ageFetal Trisomy 13 prior risk [Likelihood] Based on maternal ageTrisomy 13 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Trisomy 13 prior risk  Likelihood  Pt  ^Fetus  Qn  Based on maternal age
  Long Common Name:  Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age
  Short Name:  Fet Ts 13 prior risk from Mat age
  Display Name:  Trisomy 13 prior risk Based on maternal age Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185766-5  Trisomy 13 prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185800-2  Based on maternal age 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  三体型 13 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法三体型 13 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 13 prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageTrisomy 13 prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageRisque prédominant trisomie 13 [Probabilité] Concerne le foetus ; Numérique ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Trisomia 13, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età maternaTrisomia 13, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de trisomía 13:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad maternaRiesgo previo de trisomía 13:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna

RELATED NAMES
  Fetal Point in time Random
  from Mat age QNT Risk
  Molecular pathology Quan Ts
  MOLPATH Quant Ts 13 prior risk
  MOLPATH.TRISOMY Quantitative  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age
  Shortname: Fet Ts 13 prior risk from Mat age
  Fully Specified Name: Trisomy 13 prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age
     
  Component Word Count: 4
  ID: 77234
  Status (Raw): ACTIVE


75550-4   Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age NarrativeFetal Trisomy 13 prior risk [Likelihood] Based on maternal age NarrativeTrisomy 13 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Trisomy 13 prior risk  Likelihood  Pt  ^Fetus  Nar  Based on maternal age
  Long Common Name:  Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age Narrative
  Short Name:  Fet Ts 13 prior risk from Mat age
  Display Name:  Trisomy 13 prior risk Based on maternal age Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185766-5  Trisomy 13 prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185800-2  Based on maternal age 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  三体型 13 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法三体型 13 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 13 prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageTrisomy 13 prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageRisque prédominant trisomie 13 [Probabilité] Concerne le foetus ; Résultat textuel ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Trisomia 13, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età maternaTrisomia 13, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de trisomía 13:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad maternaRiesgo previo de trisomía 13:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna

RELATED NAMES
  Fetal Narrative Ts
  from Mat age Point in time Ts 13 prior risk
  Molecular pathology Random  
  MOLPATH Report  
  MOLPATH.TRISOMY Risk  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age Narrative
  Shortname: Fet Ts 13 prior risk from Mat age
  Fully Specified Name: Trisomy 13 prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age
     
  Component Word Count: 4
  ID: 77238
  Status (Raw): ACTIVE


75548-8   Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal trisomy 13 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 13 risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet Ts 13 risk WBC.DNA+cfDNA Qn
  Display Name:  Trisomy 13 risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal trisomy 13 risk
  Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [GHR: trisomy-13]
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP99499-3  Fetal trisomy 13 risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 13 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNATrisomy 13 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque Trisomie 13 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom Plasma Risk
  Chromosomes Plsm Spec
  Leukocytes Point in time Ts
  Molecular pathology QNT Ts 13 risk
  MOLPATH Quan WBC.DNA+cfDNA
  MOLPATH.TRISOMY Quant WBCs
  Patau syndrome Quantitative White blood cells
  Pl Random  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet Ts 13 risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal trisomy 13 risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77236
  Status (Raw): ACTIVE


75551-2   Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal trisomy 13 risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 13 risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Fet Ts 13 risk WBC.DNA+cfDNA
  Display Name:  Trisomy 13 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal trisomy 13 risk
  Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [GHR: trisomy-13]
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP99499-3  Fetal trisomy 13 risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 13 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNATrisomy 13 risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque Trisomie 13 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom Pl Ts
  Chromosomes Plasma Ts 13 risk
  Leukocytes Plsm WBC.DNA+cfDNA
  Molecular pathology Point in time WBCs
  MOLPATH Random White blood cells
  MOLPATH.TRISOMY Report  
  Narrative Risk  
  Patau syndrome Spec  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Fet Ts 13 risk WBC.DNA+cfDNA
  Fully Specified Name: Fetal trisomy 13 risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77239
  Status (Raw): ACTIVE


75552-0   Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal trisomy 13 risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal trisomy 13 risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet Ts 13 risk WBC.DNA+cfDNA Ql
  Display Name:  Trisomy 13 risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal trisomy 13 risk
  Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [GHR: trisomy-13]
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP99499-3  Fetal trisomy 13 risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 13 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNATrisomy 13 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque Trisomie 13 [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom MOLPATH.TRISOMY Random
  Chromosomes Ordinal Screen
  Impression Patau syndrome Spec
  Impression/interpretation of study Pl Ts
  Impressions Plasma Ts 13 risk
  Interp Plsm WBC.DNA+cfDNA
  Interpretation Point in time WBCs
  Leukocytes QL White blood cells
  Molecular pathology Qual  
  MOLPATH Qualitative  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:23 PM
  Long Common Name: Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet Ts 13 risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal trisomy 13 risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77240
  Status (Raw): ACTIVE


75553-8   Genetic counselor comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 13 risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal Trisomy 13 risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet Ts 13 risk
  Display Name:  Genetic counselor comment on Trisomy 13 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal Trisomy 13 risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal Trisomy 13 risk
  Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [GHR: trisomy-13]
 
 

CONDITION FOR INCLUSION
If fetal trisomy 13 risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185802-8  Genetic counselor comment on fetal Trisomy 13 risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  关于三体型 13 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定关于三体型 13 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on Trisomy 13 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on Trisomy 13 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque trisomie 13 commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Commento di consulente genetico su rischio Trisomia 13:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specificoCommento di consulente genetico su rischio Trisomia 13:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Comentario de consejo genético en riesgo de Trisomía 13:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específicoComentario de consejo genético en riesgo de Trisomía 13:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Leukocytes Remarks
  Chromosomes Molecular pathology Report
  cmmt MOLPATH Spec
  cmnt MOLPATH.TRISOMY Text
  Com Narrative Ts
  Comm Patau syndrome Ts 13 risk
  Comments Pl WBC.DNA+cfDNA
  Commt Plasma WBCs
  Gen couns comm fet Ts 13 risk Plsm White blood cells
  Genetics Point in time  
  Genomic Random  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Genetic counselor comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet Ts 13 risk
  Fully Specified Name: Genetic counselor comment on fetal Trisomy 13 risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77241
  Status (Raw): ACTIVE


75566-0   Fetal Monosomy X prior risk [Likelihood] Based on maternal ageFetal Monosomy X prior risk [Likelihood] Based on maternal ageMonosomy X prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Monosomy X prior risk  Likelihood  Pt  ^Fetus  Qn  Based on maternal age
  Long Common Name:  Fetal Monosomy X prior risk [Likelihood] Based on maternal age
  Short Name:  Fet Ms X prior risk from Mat age
  Display Name:  Monosomy X prior risk Based on maternal age Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185767-3  Monosomy X prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185800-2  Based on maternal age 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  单体型 X 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法单体型 X 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Monosomy X prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageMonosomy X prior risk:Likelihood:Pt:^Fetus:Qn:Based on maternal ageRisque prédominant monosomie X [Probabilité] Concerne le foetus ; Numérique ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Monosomia X, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età maternaMonosomia X, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de monosomía X:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad maternaRiesgo previo de monosomía X:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna

RELATED NAMES
  Fetal Point in time Random
  from Mat age QNT Risk
  Molecular pathology Quan  
  MOLPATH Quant  
  Ms X prior risk Quantitative  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal Monosomy X prior risk [Likelihood] Based on maternal age
  Shortname: Fet Ms X prior risk from Mat age
  Fully Specified Name: Monosomy X prior risk: Likelihood: Pt: ^Fetus: Qn: Based on maternal age
     
  Component Word Count: 4
  ID: 77254
  Status (Raw): ACTIVE


75568-6   Fetal Monosomy X prior risk [Likelihood] Based on maternal age NarrativeFetal Monosomy X prior risk [Likelihood] Based on maternal age NarrativeMonosomy X prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Monosomy X prior risk  Likelihood  Pt  ^Fetus  Nar  Based on maternal age
  Long Common Name:  Fetal Monosomy X prior risk [Likelihood] Based on maternal age Narrative
  Short Name:  Fet Ms X prior risk from Mat age
  Display Name:  Monosomy X prior risk Based on maternal age Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: Based on maternal age
  The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185767-3  Monosomy X prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185800-2  Based on maternal age 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  单体型 X 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法单体型 X 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Monosomy X prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageMonosomy X prior risk:Likelihood:Pt:^Fetus:Nar:Based on maternal ageRisque prédominant monosomie X [Probabilité] Concerne le foetus ; Résultat textuel ; Basé sur l'âge de la mère
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Monosomia X, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età maternaMonosomia X, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de monosomía X:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad maternaRiesgo previo de monosomía X:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna

RELATED NAMES
  Fetal Ms X prior risk Report
  from Mat age Narrative Risk
  Molecular pathology Point in time  
  MOLPATH Random  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal Monosomy X prior risk [Likelihood] Based on maternal age Narrative
  Shortname: Fet Ms X prior risk from Mat age
  Fully Specified Name: Monosomy X prior risk: Likelihood: Pt: ^Fetus: Nar: Based on maternal age
     
  Component Word Count: 4
  ID: 77256
  Status (Raw): ACTIVE


75567-8   Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal monosomy X risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal monosomy X risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet Ms X risk WBC.DNA+cfDNA Qn
  Display Name:  Monosomy X risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal monosomy X risk
  Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [GHR: turner-syndrome]
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185775-6  Fetal monosomy X risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  单体型 X 风险:似然性:时间点:白细胞.DNA+​血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定单体型 X 风险:似然性:时间点:白细胞.DNA+​血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Monosomy X risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNAMonosomy X risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque monosomie X [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Monosomia X, rischio:Probabilità:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specificoMonosomia X, rischio:Probabilità:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específicoRiesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Plsm Spec
  Chromosomes Point in time Turner syndrome
  Leukocytes QNT WBC.DNA+cfDNA
  Molecular pathology Quan WBCs
  MOLPATH Quant White blood cells
  Ms X risk Quantitative  
  Pl Random  
  Plasma Risk  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet Ms X risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal monosomy X risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77255
  Status (Raw): ACTIVE


75569-4   Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal monosomy X risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal monosomy X risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Fet Ms X risk WBC.DNA+cfDNA
  Display Name:  Monosomy X risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal monosomy X risk
  Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [GHR: turner-syndrome]
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185775-6  Fetal monosomy X risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  单体型 X 风险:似然性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定单体型 X 风险:似然性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Monosomy X risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAMonosomy X risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque monosomie X [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Monosomia X, rischio:Probabilità:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specificoMonosomia X, rischio:Probabilità:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específicoRiesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Pl Spec
  Chromosomes Plasma Turner syndrome
  Leukocytes Plsm WBC.DNA+cfDNA
  Molecular pathology Point in time WBCs
  MOLPATH Random White blood cells
  Ms X risk Report  
  Narrative Risk  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Fet Ms X risk WBC.DNA+cfDNA
  Fully Specified Name: Fetal monosomy X risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77257
  Status (Raw): ACTIVE


75570-2   Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Monosomy X risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal monosomy X risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal monosomy X risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet Ms X risk WBC.DNA+cfDNA Ql
  Display Name:  Monosomy X risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal monosomy X risk
  Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [GHR: turner-syndrome]
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185775-6  Fetal monosomy X risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  单体型 X 风险:印象:时间点:白细胞.DNA+​血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定单体型 X 风险:印象:时间点:白细胞.DNA+​血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Monosomy X risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNAMonosomy X risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque monosomie X [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Monosomia X, rischio:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specificoMonosomia X, rischio:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo de monosomía X:Impresión/​interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específicoRiesgo de monosomía X:Impresión/​interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom MOLPATH Qualitative
  Chromosomes Ms X risk Random
  Impression Ordinal Screen
  Impression/interpretation of study Pl Spec
  Impressions Plasma Turner syndrome
  Interp Plsm WBC.DNA+cfDNA
  Interpretation Point in time WBCs
  Leukocytes QL White blood cells
  Molecular pathology Qual  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet Ms X risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal monosomy X risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77258
  Status (Raw): ACTIVE


75571-0   Genetic counselor comment on fetal Monosomy X risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Monosomy X risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Monosomy X risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal Monosomy X risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal Monosomy X risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet Mon X 13 risk
  Display Name:  Genetic counselor comment on Monosomy X risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal Monosomy X risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal Monosomy X risk
  Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [GHR: turner-syndrome]
 
 

CONDITION FOR INCLUSION
If fetal Monosomy X risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185988-5  Genetic counselor comment on fetal Monosomy X risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on Monosomy X risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on Monosomy X risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque monosomie X commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom Genomic Random
  Chromosomes Leukocytes Remarks
  cmmt Molecular pathology Report
  cmnt MOLPATH Spec
  Com Ms X risk Text
  Comm Narrative Turner syndrome
  Comments Pl WBC.DNA+cfDNA
  Commt Plasma WBCs
  Gen couns comm fet Mon X risk Plsm White blood cells
  Genetics Point in time  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Genetic counselor comment on fetal Monosomy X risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet Mon X 13 risk
  Fully Specified Name: Genetic counselor comment on fetal Monosomy X risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77259
  Status (Raw): ACTIVE


75572-8   Fetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal triploidy risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal triploidy risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet Trip risk WBC.DNA+cfDNA Ql
  Display Name:  Triploidy risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal triploidy risk
  Triploidy risk refers to the fetus's risk of being affected by triploid syndrome. The risk can be determined by prenatal genetic testing of fetal DNA. Triploid syndrome is caused by the presence of three copies of every chromosome rather than two, for a total of 69 chromosomes rather than the normal 46. The majority of cases are due to two sperm fertilizing a single egg. Most fetuses with triploidy are lost due to miscarriage, and the few infants born with triploidy have multiple birth defects and only survive a few months. [https://www.rarediseases.org]
 
 

OBSERVATION REQUIRED IN PANEL
Required

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185909-1  Fetal triploidy risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Triploidy risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNATriploidy risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque triploïdie [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom MOLPATH.TRISOMY Screen
  Chromosomes Ordinal Spec
  Impression Pl Trip risk
  Impression/interpretation of study Plasma Ts
  Impressions Plsm WBC.DNA+cfDNA
  Interp Point in time WBCs
  Interpretation QL White blood cells
  Leukocytes Qual  
  Molecular pathology Qualitative  
  MOLPATH Random  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet Trip risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal triploidy risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 3
  ID: 77260
  Status (Raw): ACTIVE


75573-6   Fetal Genetic counselor comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Genetic counselor comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Triploidy risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal Triploidy risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Genetic counselor comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet Triploidy risk
  Display Name:  Genetic counselor comment on Triploidy risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal Triploidy risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal Triploidy risk
  Triploidy risk refers to the fetus's risk of being affected by triploid syndrome. The risk can be determined by prenatal genetic testing of fetal DNA. Triploid syndrome is caused by the presence of three copies of every chromosome rather than two, for a total of 69 chromosomes rather than the normal 46. The majority of cases are due to two sperm fertilizing a single egg. Most fetuses with triploidy are lost due to miscarriage, and the few infants born with triploidy have multiple birth defects and only survive a few months. [https://www.rarediseases.org]
 
 

CONDITION FOR INCLUSION
If fetal triploidy risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185990-1  Genetic counselor comment on fetal Triploidy risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on Triploidy risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on Triploidy risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque triploïdie commentaire du conseiller génétique [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom Impression/interpretation of study Point in time
  Chromosomes Impressions Random
  cmmt Interp Remarks
  cmnt Interpretation Report
  Com Leukocytes Spec
  Comm Molecular pathology Trip risk
  Comments MOLPATH Ts
  Commt MOLPATH.TRISOMY WBC.DNA+cfDNA
  Gen couns comm fet Triploidy risk Narrative WBCs
  Genetics Pl White blood cells
  Genomic Plasma  
  Impression Plsm  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal Genetic counselor comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet Triploidy risk
  Fully Specified Name: Genetic counselor comment on fetal Triploidy risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 7
  ID: 77261
  Status (Raw): ACTIVE


75574-4   Fetal 22q11.2 deletion prior risk [Likelihood] based on general population riskFetal 22q11.2 deletion prior risk [Likelihood] based on general population risk22q11.2 deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
22q11.2 deletion prior risk  Likelihood  Pt  ^Fetus  Qn  Based on general population risk
  Long Common Name:  Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk
  Short Name:  Fet 22q11.2 del prior risk from Pop risk
  Display Name:  22q11.2 del prior risk based on general population risk Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185768-1  22q11.2 deletion prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185907-5  based on general population risk 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  22q11.2 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法22q11.2 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  22q11.2 deletion prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population risk22q11.2 deletion prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population riskRisque prédominant délétion 22q11.2 [Probabilité] Concerne le foetus ; Numérique ; Basé sur la prévalence de la population
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Delezione 22q11.2 rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generaleDelezione 22q11.2 rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población generalRiesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general

RELATED NAMES
  22q11.2 del prior risk MOLPATH.DELETIONS Quantitative
  Fetal Point in time Random
  from Pop risk QNT Risk
  Molecular pathology Quan  
  MOLPATH Quant  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk
  Shortname: Fet 22q11.2 del prior risk from Pop risk
  Fully Specified Name: 22q11.2 deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk
     
  Component Word Count: 4
  ID: 77262
  Status (Raw): ACTIVE


75575-1   Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk NarrativeFetal 22q11.2 deletion prior risk [Likelihood] based on general population risk Narrative22q11.2 deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
22q11.2 deletion prior risk  Likelihood  Pt  ^Fetus  Nar  Based on general population risk
  Long Common Name:  Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk Narrative
  Short Name:  Fet 22q11.2 del prior risk from Pop risk
  Display Name:  22q11.2 del prior risk based on general population risk Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185768-1  22q11.2 deletion prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185907-5  based on general population risk 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  22q11.2 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法22q11.2 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  22q11.2 deletion prior risk:Likelihood:Pt:^Fetus:Nar:Based on general population risk22q11.2 deletion prior risk:Likelihood:Pt:^Fetus:Nar:Based on general population riskRisque prédominant délétion 22q11.2 [Probabilité] Concerne le foetus ; Résultat textuel ; Basé sur la prévalence de la population
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Delezione 22q11.2 rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generaleDelezione 22q11.2 rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población generalRiesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general

RELATED NAMES
  22q11.2 del prior risk MOLPATH Random
  Fetal MOLPATH.DELETIONS Report
  from Pop risk Narrative Risk
  Molecular pathology Point in time  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk Narrative
  Shortname: Fet 22q11.2 del prior risk from Pop risk
  Fully Specified Name: 22q11.2 deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk
     
  Component Word Count: 4
  ID: 77263
  Status (Raw): ACTIVE


75576-9   Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 22q11.2 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal 22q11.2 deletion risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet 22q11.2 del risk WBC.DNA+cfDNA Qn
  Display Name:  22q11.2 del risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal 22q11.2 deletion risk
  22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 22q112-deletion-syndrome]
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185776-4  Fetal 22q11.2 deletion risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  22q11.2 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNA22q11.2 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque délétion 22q11.2 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  22q11.2 del risk Plasma Risk
  Chromosom Plsm Spec
  Chromosomes Point in time WBC.DNA+cfDNA
  Leukocytes QNT WBCs
  Molecular pathology Quan White blood cells
  MOLPATH Quant  
  MOLPATH.DELETIONS Quantitative  
  Pl Random  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:24 PM
  Long Common Name: Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet 22q11.2 del risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal 22q11.2 deletion risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77264
  Status (Raw): ACTIVE


75577-7   Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 22q11.2 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal 22q11.2 deletion risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Fet 22q11.2 del risk WBC.DNA+cfDNA
  Display Name:  22q11.2 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal 22q11.2 deletion risk
  22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 22q112-deletion-syndrome]
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185776-4  Fetal 22q11.2 deletion risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  22q11.2 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNA22q11.2 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque délétion 22q11.2 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  22q11.2 del risk Narrative Risk
  Chromosom Pl Spec
  Chromosomes Plasma WBC.DNA+cfDNA
  Leukocytes Plsm WBCs
  Molecular pathology Point in time White blood cells
  MOLPATH Random  
  MOLPATH.DELETIONS Report  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Fet 22q11.2 del risk WBC.DNA+cfDNA
  Fully Specified Name: Fetal 22q11.2 deletion risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77265
  Status (Raw): ACTIVE


75578-5   Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 22q11.2 deletion risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal 22q11.2 deletion risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet 22q11.2 del risk WBC.DNA+cfDNA Ql
  Display Name:  22q11.2 del risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal 22q11.2 deletion risk
  22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 22q112-deletion-syndrome]
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185776-4  Fetal 22q11.2 deletion risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  22q11.2 deletion risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA22q11.2 deletion risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque délétion 22q11.2 [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  22q11.2 del risk Molecular pathology Qual
  Chromosom MOLPATH Qualitative
  Chromosomes MOLPATH.DELETIONS Random
  Impression Ordinal Screen
  Impression/interpretation of study Pl Spec
  Impressions Plasma WBC.DNA+cfDNA
  Interp Plsm WBCs
  Interpretation Point in time White blood cells
  Leukocytes QL  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet 22q11.2 del risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal 22q11.2 deletion risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77266
  Status (Raw): ACTIVE


75579-3   Genetic counselor comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 22q11.2 deletion risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal 22q11.2 deletion risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet 22q11.2 del risk
  Display Name:  Genetic counselor comment on fetal 22q11.2 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal 22q11.2 deletion risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal 22q11.2 deletion risk
  22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 22q112-deletion-syndrome]
 
 

CONDITION FOR INCLUSION
If fetal 22q11.2 deletion risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185989-3  Genetic counselor comment on fetal 22q11.2 deletion risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on 22q11.2 deletion risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on 22q11.2 deletion risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque délétion 22q11.2 commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  22q11.2 del risk Genetics Point in time
  Chromosom Genomic Random
  Chromosomes Leukocytes Remarks
  cmmt Molecular pathology Report
  cmnt MOLPATH Spec
  Com MOLPATH.DELETIONS Text
  Comm Narrative WBC.DNA+cfDNA
  Comments Pl WBCs
  Commt Plasma White blood cells
  Gen couns comm fet 22q11.2del risk Plsm  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Genetic counselor comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet 22q11.2 del risk
  Fully Specified Name: Genetic counselor comment on fetal 22q11.2 deletion risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77267
  Status (Raw): ACTIVE


75598-3   Fetal 1p36 deletion prior risk [Likelihood] based on general population riskFetal 1p36 deletion prior risk [Likelihood] based on general population risk1p36 deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
1p36 deletion prior risk  Likelihood  Pt  ^Fetus  Qn  Based on general population risk
  Long Common Name:  Fetal 1p36 deletion prior risk [Likelihood] based on general population risk
  Short Name:  Fet 1p36 del prior risk from Pop risk
  Display Name:  1p36 del prior risk based on general population risk Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185773-1  1p36 deletion prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185907-5  based on general population risk 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  1p36 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法1p36 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  1p36 deletion prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population risk1p36 deletion prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population riskRisque prédominant délétion 1p36 [Probabilité] Concerne le foetus ; Numérique ; Basé sur la prévalence de la population
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Delezione 1p36 rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generaleDelezione 1p36 rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de deleción 1p36:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población generalRiesgo previo de deleción 1p36:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general

RELATED NAMES
  1p36 del prior risk MOLPATH.DELETIONS Quantitative
  Fetal Point in time Random
  from Pop risk QNT Risk
  Molecular pathology Quan  
  MOLPATH Quant  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal 1p36 deletion prior risk [Likelihood] based on general population risk
  Shortname: Fet 1p36 del prior risk from Pop risk
  Fully Specified Name: 1p36 deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk
     
  Component Word Count: 4
  ID: 77286
  Status (Raw): ACTIVE


75599-1   Fetal 1p36 deletion prior risk [Likelihood] based on general population risk NarrativeFetal 1p36 deletion prior risk [Likelihood] based on general population risk Narrative1p36 deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
1p36 deletion prior risk  Likelihood  Pt  ^Fetus  Nar  Based on general population risk
  Long Common Name:  Fetal 1p36 deletion prior risk [Likelihood] based on general population risk Narrative
  Short Name:  Fet 1p36 del prior risk from Pop risk
  Display Name:  1p36 del prior risk based on general population risk Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185773-1  1p36 deletion prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185907-5  based on general population risk 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  1p36 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法1p36 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  1p36 deletion prior risk:Likelihood:Pt:^Fetus:Nar:Based on general population risk1p36 deletion prior risk:Likelihood:Pt:^Fetus:Nar:Based on general population riskRisque prédominant délétion 1p36 [Probabilité] Concerne le foetus ; Résultat textuel ; Basé sur la prévalence de la population
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Delezione 1p36 rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generaleDelezione 1p36 rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de deleción 1p36:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población generalRiesgo previo de deleción 1p36:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general

RELATED NAMES
  1p36 del prior risk MOLPATH Random
  Fetal MOLPATH.DELETIONS Report
  from Pop risk Narrative Risk
  Molecular pathology Point in time  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal 1p36 deletion prior risk [Likelihood] based on general population risk Narrative
  Shortname: Fet 1p36 del prior risk from Pop risk
  Fully Specified Name: 1p36 deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk
     
  Component Word Count: 4
  ID: 77287
  Status (Raw): ACTIVE


75600-7   Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal 1p36 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal 1p36 deletion risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet 1p36 del risk WBC.DNA+cfDNA Qn
  Display Name:  1p36 del risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal 1p36 deletion risk
  1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 1p36-deletion-syndrome]
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185774-9  Fetal 1p36 deletion risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  1p36 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNA1p36 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque délétion 1p36 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  1p36 del risk Plasma Risk
  Chromosom Plsm Spec
  Chromosomes Point in time WBC.DNA+cfDNA
  Leukocytes QNT WBCs
  Molecular pathology Quan White blood cells
  MOLPATH Quant  
  MOLPATH.DELETIONS Quantitative  
  Pl Random  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet 1p36 del risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal 1p36 deletion risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77288
  Status (Raw): ACTIVE


75601-5   Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal 1p36 deletion risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal 1p36 deletion risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Fet 1p36 del risk WBC.DNA+cfDNA
  Display Name:  1p36 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal 1p36 deletion risk
  1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 1p36-deletion-syndrome]
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185774-9  Fetal 1p36 deletion risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  1p36 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNA1p36 deletion risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque délétion 1p36 [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  1p36 del risk Narrative Risk
  Chromosom Pl Spec
  Chromosomes Plasma WBC.DNA+cfDNA
  Leukocytes Plsm WBCs
  Molecular pathology Point in time White blood cells
  MOLPATH Random  
  MOLPATH.DELETIONS Report  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Fet 1p36 del risk WBC.DNA+cfDNA
  Fully Specified Name: Fetal 1p36 deletion risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77289
  Status (Raw): ACTIVE


75602-3   Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 1p36 deletion risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal 1p36 deletion risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet 1p36 del risk WBC.DNA+cfDNA Ql
  Display Name:  1p36 del risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal 1p36 deletion risk
  1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 1p36-deletion-syndrome]
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185774-9  Fetal 1p36 deletion risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  1p36 deletion risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA1p36 deletion risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque délétion 1p36 [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  1p36 del risk Molecular pathology Qual
  Chromosom MOLPATH Qualitative
  Chromosomes MOLPATH.DELETIONS Random
  Impression Ordinal Screen
  Impression/interpretation of study Pl Spec
  Impressions Plasma WBC.DNA+cfDNA
  Interp Plsm WBCs
  Interpretation Point in time White blood cells
  Leukocytes QL  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet 1p36 del risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal 1p36 deletion risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77290
  Status (Raw): ACTIVE


75603-1   Genetic counselor comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal 1p36 deletion risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal 1p36 deletion risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet 1p36 del risk
  Display Name:  Genetic counselor comment on fetal 1p36 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal 1p36 deletion risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal 1p36 deletion risk
  1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 1p36-deletion-syndrome]
 
 

CONDITION FOR INCLUSION
If fetal 1p36 deletion risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185994-3  Genetic counselor comment on fetal 1p36 deletion risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on 1p36 deletion risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on 1p36 deletion risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque délétion 1p36 commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  1p36 del risk Genetics Point in time
  Chromosom Genomic Random
  Chromosomes Leukocytes Remarks
  cmmt Molecular pathology Report
  cmnt MOLPATH Spec
  Com MOLPATH.DELETIONS Text
  Comm Narrative WBC.DNA+cfDNA
  Comments Pl WBCs
  Commt Plasma White blood cells
  Gen couns comm fet 1p36 del risk Plsm  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Genetic counselor comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet 1p36 del risk
  Fully Specified Name: Genetic counselor comment on fetal 1p36 deletion risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77291
  Status (Raw): ACTIVE


75586-8   Fetal Angelman syndrome prior risk [Likelihood] based on general population riskFetal Angelman syndrome prior risk [Likelihood] based on general population riskAngelman syndrome prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Angelman syndrome prior risk  Likelihood  Pt  ^Fetus  Qn  Based on general population risk
  Long Common Name:  Fetal Angelman syndrome prior risk [Likelihood] based on general population risk
  Short Name:  Fet AS prior risk from Pop risk
  Display Name:  Angelman syndrome prior risk based on general population risk Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185772-3  Angelman syndrome prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185907-5  based on general population risk 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  安吉尔曼综合征先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法安吉尔曼综合征先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Angelman syndrome prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population riskAngelman syndrome prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population riskRisque prédominant syndrome d'Angelman [Probabilité] Concerne le foetus ; Numérique ; Basé sur la prévalence de la population
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Sindrome di Angelman, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generaleSindrome di Angelman, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de síndrome de Angelman:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población generalRiesgo previo de síndrome de Angelman:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general

RELATED NAMES
  AS prior risk Point in time Random
  Fetal QNT Risk
  from Pop risk Quan  
  Molecular pathology Quant  
  MOLPATH Quantitative  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal Angelman syndrome prior risk [Likelihood] based on general population risk
  Shortname: Fet AS prior risk from Pop risk
  Fully Specified Name: Angelman syndrome prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk
     
  Component Word Count: 4
  ID: 77274
  Status (Raw): ACTIVE


75587-6   Fetal Angelman syndrome prior risk [Likelihood] based on general population risk NarrativeFetal Angelman syndrome prior risk [Likelihood] based on general population risk NarrativeAngelman syndrome prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Angelman syndrome prior risk  Likelihood  Pt  ^Fetus  Nar  Based on general population risk
  Long Common Name:  Fetal Angelman syndrome prior risk [Likelihood] based on general population risk Narrative
  Short Name:  Fet AS prior risk from Pop risk
  Display Name:  Angelman syndrome prior risk based on general population risk Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185772-3  Angelman syndrome prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185907-5  based on general population risk 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  安吉尔曼综合征先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法安吉尔曼综合征先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Angelman syndrome prior risk:Likelihood:Pt:^Fetus:Nar:Based on general population riskAngelman syndrome prior risk:Likelihood:Pt:^Fetus:Nar:Based on general population riskRisque prédominant syndrome d'Angelman [Probabilité] Concerne le foetus ; Résultat textuel ; Basé sur la prévalence de la population
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Sindrome di Angelman, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generaleSindrome di Angelman, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de síndrome de Angelman:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población generalRiesgo previo de síndrome de Angelman:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general

RELATED NAMES
  AS prior risk MOLPATH Report
  Fetal Narrative Risk
  from Pop risk Point in time  
  Molecular pathology Random  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal Angelman syndrome prior risk [Likelihood] based on general population risk Narrative
  Shortname: Fet AS prior risk from Pop risk
  Fully Specified Name: Angelman syndrome prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk
     
  Component Word Count: 4
  ID: 77275
  Status (Raw): ACTIVE


75588-4   Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Angelman syndrome risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal Angelman syndrome risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet AS risk WBC.DNA+cfDNA Qn
  Display Name:  Angelman syndrome risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal Angelman syndrome risk
  Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [GHR: angelman-syndrome]
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185771-5  Fetal Angelman syndrome risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Angelman syndrome risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNAAngelman syndrome risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque syndrome d'Angelman [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  AS risk Plasma Random
  Chromosom Plsm Risk
  Chromosomes Point in time Spec
  Leukocytes QNT WBC.DNA+cfDNA
  Molecular pathology Quan WBCs
  MOLPATH Quant White blood cells
  Pl Quantitative  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:25 PM
  Long Common Name: Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet AS risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal Angelman syndrome risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77276
  Status (Raw): ACTIVE


75589-2   Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeFetal Angelman syndrome risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal Angelman syndrome risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Fet AS risk WBC.DNA+cfDNA
  Display Name:  Angelman syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal Angelman syndrome risk
  Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [GHR: angelman-syndrome]
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185771-5  Fetal Angelman syndrome risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Angelman syndrome risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAAngelman syndrome risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque syndrome d'Angelman [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  AS risk Pl Spec
  Chromosom Plasma WBC.DNA+cfDNA
  Chromosomes Plsm WBCs
  Leukocytes Point in time White blood cells
  Molecular pathology Random  
  MOLPATH Report  
  Narrative Risk  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:26 PM
  Long Common Name: Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Fet AS risk WBC.DNA+cfDNA
  Fully Specified Name: Fetal Angelman syndrome risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77277
  Status (Raw): ACTIVE


75590-0   Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Angelman syndrome risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal Angelman syndrome risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet AS risk WBC.DNA+cfDNA Ql
  Display Name:  Angelman syndrome risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal Angelman syndrome risk
  Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [GHR: angelman-syndrome]
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185771-5  Fetal Angelman syndrome risk 
Property   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Angelman syndrome risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNAAngelman syndrome risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque syndrome d'Angelman [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  AS risk Molecular pathology Qualitative
  Chromosom MOLPATH Random
  Chromosomes Ordinal Screen
  Impression Pl Spec
  Impression/interpretation of study Plasma WBC.DNA+cfDNA
  Impressions Plsm WBCs
  Interp Point in time White blood cells
  Interpretation QL  
  Leukocytes Qual  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:26 PM
  Long Common Name: Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet AS risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal Angelman syndrome risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77278
  Status (Raw): ACTIVE


75591-8   Genetic counselor comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Angelman syndrome risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal Angelman syndrome risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet AS risk
  Display Name:  Genetic counselor comment on Angelman syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal Angelman syndrome risk
  The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation.
 
 
  Part: Genetic counselor comment on fetal Angelman syndrome risk
  Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [GHR: angelman-syndrome]
 
 

CONDITION FOR INCLUSION
If fetal Angelman syndrome risk is high, a genetic counselor comment should be included.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185991-9  Genetic counselor comment on fetal Angelman syndrome risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on Angelman syndrome risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on Angelman syndrome risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque syndrome d'Angelman commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  AS risk Genetics Random
  Chromosom Genomic Remarks
  Chromosomes Leukocytes Report
  cmmt Molecular pathology Spec
  cmnt MOLPATH Text
  Com Narrative WBC.DNA+cfDNA
  Comm Pl WBCs
  Comments Plasma White blood cells
  Commt Plsm  
  Gen couns comm fet AS risk Point in time  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:26 PM
  Long Common Name: Genetic counselor comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet AS risk
  Fully Specified Name: Genetic counselor comment on fetal Angelman syndrome risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77279
  Status (Raw): ACTIVE


75592-6   Fetal 5p deletion prior risk [Likelihood] based on general population riskFetal 5p deletion prior risk [Likelihood] based on general population risk5p deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
5p deletion prior risk  Likelihood  Pt  ^Fetus  Qn  Based on general population risk
  Long Common Name:  Fetal 5p deletion prior risk [Likelihood] based on general population risk
  Short Name:  Fet 5p del prior risk from Pop risk
  Display Name:  5p del prior risk based on general population risk Qn (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

CONDITION FOR INCLUSION
Microdeletion risk analysis requested as part of lab order.

OBSERVATION REQUIRED IN PANEL
Conditional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP186095-8  5p deletion prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7753-9  Qn 
Method   LP185907-5  based on general population risk 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  5p 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法5p 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  5p deletion prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population risk5p deletion prior risk:Likelihood:Pt:^Fetus:Qn:Based on general population riskRisque prédominant délétion 5p [Probabilité] Concerne le foetus ; Numérique ; Basé sur la prévalence de la population
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Delezione 5p rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generaleDelezione 5p rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo previo de deleción 5p:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población generalRiesgo previo de deleción 5p:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general

RELATED NAMES
  5p del prior risk MOLPATH.DELETIONS Quantitative
  Fetal Point in time Random
  from Pop risk QNT Risk
  Molecular pathology Quan  
  MOLPATH Quant  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:26 PM
  Long Common Name: Fetal 5p deletion prior risk [Likelihood] based on general population risk
  Shortname: Fet 5p del prior risk from Pop risk
  Fully Specified Name: 5p deletion prior risk: Likelihood: Pt: ^Fetus: Qn: Based on general population risk
     
  Component Word Count: 4
  ID: 77280
  Status (Raw): ACTIVE


75593-4   Fetal 5p deletion prior risk [Likelihood] based on general population risk NarrativeFetal 5p deletion prior risk [Likelihood] based on general population risk Narrative5p deletion prior risk: Likelihood: Pt: ^Fetus: Nar: Based on general population risk  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
5p deletion prior risk  Likelihood  Pt  ^Fetus  Nar  Based on general population risk
  Long Common Name:  Fetal 5p deletion prior risk [Likelihood] based on general population risk Narrative
  Short Name:  Fet 5p del prior risk from Pop risk
  Display Name:  5p del prior risk based on general population risk Nar (fetus)

PART DEFINITION/DESCRIPTION(S)
  Part: based on general population risk
  The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births.
 
 

OBSERVATION REQUIRED IN PANEL
Optional

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.54
  Order vs. Obs.: Both
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP186095-8  5p deletion prior risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
Super System   LP6982-5  Fetus 
Scale   LP7749-7  Nar 
Method   LP185907-5  based on general population risk