Prader-Willi/Angelman Syndrome, DNA Methylation Analysis

Test Code

11369

CPT Codes
81331

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Whole blood collected in ACD (yellow-top) tube

Instructions

Whole blood: Normal phlebotomy procedure. Store and ship room temperature immediately. Do not freeze.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Methodology
Capillary Electrophoresis • Polymerase Chain Reaction (PCR)

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Tues; Report available: 8 days

Reference Range

See Laboratory Report

Clinical Significance

This test will detect Prader-Willi or Angelman syndrome in a patient with clinical suspicion of either of these disorders. The test detects methylation changes in the chromosome 15 q11-13 region that are responsible for more than 99% of PWS and about 80% of AS.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.