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  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal Prader-Willi syndrome risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet PWS risk WBC.DNA+cfDNA Ql
  Display Name:  Prader-Willi 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 Prader-Willi syndrome risk
  Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [GHR: prader-willi-syndrome]
 
 

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   LP185770-7  Fetal Prader-Willi 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))
 
  Prader-Willi syndrome risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNAPrader-Willi syndrome risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque syndrome de Prader-Willi [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

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

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:16 PM
  Long Common Name: Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet PWS risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal Prader-Willi syndrome risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 5
  ID: 77272
  Status (Raw): ACTIVE

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