Prader-Willi/Angelman Syndrome, DNA Methylation Analysis

Test Code

11369

CPT Code(s)

81331

CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.

Test Code

11369

CPT Code(s)

81331

CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.

Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.

In-home collection is not available in your area through Quest Mobile.

Clinical Significance

Prader-Willi/Angelman Syndrome, DNA Methylation Analysis - 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.

Test Resources

None found for this test
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Test Details

Methodology

Capillary Electrophoresis • Polymerase Chain Reaction (PCR)

Assay Category

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

Reference Range(s)

See Laboratory Report

LOINC® Codes, Performing Laboratory

Service Area must be determined

Methodology

Capillary Electrophoresis • Polymerase Chain Reaction (PCR)

Assay Category

Reference Range(s)

See Laboratory Report

LOINC® Codes, Performing Laboratory

Service Area must be determined

Preferred Specimen(s)

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

Alternative Specimen(s)

ACD solution A (yellow-top) tube • ACD solution B (yellow-top) tube

Minimum Volume

3 mL

Collection Instructions

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

Physician Attestation of Informed Consent - This germline genetic test requires physician attestation that patient consent has been received. Non-Critical

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

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

Reject Criteria

Received frozen

Setup Schedule

Service Area must be determined

Preferred Specimen(s)

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

Alternative Specimen(s)

ACD solution A (yellow-top) tube • ACD solution B (yellow-top) tube

Minimum Volume

3 mL

Collection Instructions

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

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

Reject Criteria

Received frozen

Setup Schedule

Service Area must be determined

Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.

In-home collection is not available in your area through Quest Mobile.

Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

The tests listed by specialty and category are a select group of tests offered. For a complete list of Quest Diagnostics tests, please adjust the filter options chosen, or refer to our Directory of Services.