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]
 
 

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 2:43:20 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