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Prader-Willi/Angelman Syndrome, DNA Methylation Analysis
Test Code11369
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
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 |