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]
 
 

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 2:43:20 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