3019803
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Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA, Fetal

AS-PWSDDFE
Example Reports
AS Deletion
AS UPD
Negative
PWS Deletion
PWS UPD

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Time Sensitive

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Fetal Molecular Testing Patient History Form

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Additional Technical Information

Ordering Recommendation

Prenatal diagnostic test for Angelman syndrome or Prader-Willi syndrome.

Maternal cell contamination (MCC) analysis is required and performed at no additional charge. Order Maternal Cell Contamination, Maternal Specimen (0050608) on a maternal blood specimen.

For guidance on ordering maternal cell contamination studies, please refer to Maternal Cell Contamination (MCC) Analysis Guide.  

 

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Fetal Specimen: cultured amniocytes
Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.

Specimen Preparation

Transport: Two T-25 flasks of 80% confluent cultured amniocytes. Cultured amniocytes are required for testing. If submitting uncultured (direct) amniotic fluid and testing is desired on a cultured specimen, add Cell Culture for Genetic Testing (3020627). If transporting flasks, the client is responsible for maintaining backup cultures at the client institution. If ARUP receives cultured fetal cells below minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP.

Storage/Transport Temperature

Preferred transport: Room temperature.
Preferred shipment: Within two days of collection or confluence.

Unacceptable Conditions

Frozen specimens.

Remarks
Stability

Room temperature: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable

Methodology

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

Performed

Varies

Reported

12-14 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
10/20/2025
X
N/A

CPT Codes

81331; 81265 Fetal Cell Contamination (FCC)

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
3019804 AS-PWS Fetal Specimen 66746-9
3019805 AS-PWS Fetal 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, Fetal