Prader-Willi/Angelman Syndrome, DNA Methylation Analysis

Last Modified: 12/30/2020 7:11:07 AM


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
Minimum Volume: 3.0 ml Whole Blood
Neonatal Volume: 3.0 mL Whole Blood
Transport & Storage: Temperature/Stability: 8 days Ambient  (transport)
8 days Refrigerated
Unacceptable Frozen
Rejection Criteria: Received frozen • Amniotic fluid • Cultured cells
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.
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 3 weeks
Days Performed: Tuesday
Sites Performed: Quest - Chantilly to San Juan Capistrano
PHL Test Code: MSOT
EPIC Test Code:
Send Out Test Code: 11369
Alternate Test Names: Angelman Syndrome; Prader Willi syndrome, Methylation analysis; Prader/Willi; Prader-Willi Methylation Studies
CPT Coding: 81331

Go back to the top of the page.