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]
 
 

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 2:43:16 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