Ordering Recommendation

Preferred initial diagnostic test for Angelman syndrome or Prader-Willi syndrome.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA)

Specimen Preparation

Transport 3 mL whole blood (Min: 1mL)

Storage/Transport Temperature

Whole Blood: Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions

Transfused whole blood, severely hemolyzed whole blood, heparinized whole blood, frozen whole blood.

Remarks
Stability

Whole Blood: Room temperature: 1 week; Refrigerated: 1 month; Frozen: unacceptable.

Methodology

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA)

Performed

Varies

Reported

12-14 days

Reference Interval

By Report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81331

Components

Component Test Code* Component Chart Name LOINC
3006248 AS-PWS Specimen 66746-9
3006249 AS-PWS Interpretation 41117-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Prader-Labhart-Willi Syndrome
Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA