Prader-Willi/Angelman Syndrome, DNA Methylation Analysis

Overview

  • EPIC Code:
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 11369
Alternate Names
  • Angelman Syndrome
  • Prader Willi syndrome, Methylation analysis
  • Prader-Willi Methylation Studies
  • Prader/Willi
Clinical Significance

Prader-Willi (PWS) and Angelman (AS) syndromes are distinct disorders caused by alterations in the same region of DNA on chromosome 15. Approximately 99% of PWS cases and 80% of AS cases are detectable by this assay.


Specimen Collection & Preparation

Client Notes

*Send copy of insurance cards and proper paperwork with specimen  


Specimen Requirements

5.0 mL Whole Blood in 2 (Two) Lavender Top Tubes - EDTA


Transport And Storage

8 days Ambient  (transport)
8 days Refrigerated
Unacceptable Frozen


Collection Instructions


Minimum Volume

3.0 ml Whole Blood


Neonatal Volume

3.0 mL Whole Blood

Clinical Interpretation

Reference Range:

Refer to Interpretive Results


Methodology:
  • Capillary Electrophoresis
  • Polymerase Chain Reaction (PCR)
Clinical Significance

Prader-Willi (PWS) and Angelman (AS) syndromes are distinct disorders caused by alterations in the same region of DNA on chromosome 15. Approximately 99% of PWS cases and 80% of AS cases are detectable by this assay.


Documentation

Limitations; This test analyzes the critical PWS/AS region of chromosome 15, and will identify 99% of individuals affected with PWS and 78% of individuals affected with AS. The test can help confirm a clinical diagnosis of PWS/AS, but cannot determine the underlying cause. Additional genetic testing would be needed to determine the reason for an alteration on chromosome 15.


Production Schedule

Sites Performed
  • Quest - Chantilly to San Juan Capistrano
Days Performed
Tuesday
Departments
  • Sendouts - Miscellaneous
Turn Around Time

3 weeks


Coding & Compliance

CDM

00913333


CPT Coding

81331