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]
 
 

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 2:43:17 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