Ordering Recommendation

Prenatal 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

Fetal Specimens:
Two T-25 flasks at 80 percent confluent of cultured amniocytes
AND
Maternal Whole Blood Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A)

Specimen Preparation

Fetal Specimens:
Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80 percent confluent of cultured amniocytes filled with culture media. Backup cultures must be retained at the client's institution until testing is complete. If ARUP receives a sample below the minimum confluence, CG GRW&SND (0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, CG GRW&SND should be added to initial order.
Maternal Whole Blood Specimen: Transport 3 mL whole blood (Min: 1 mL)

Storage/Transport Temperature

Fetal Specimens:
Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability.
Maternal Whole Blood Specimen: Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions

Frozen specimens in glass collection tubes.

Remarks
Stability

Fetal Specimens:
Cultured Amniocytes: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen: 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
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

By Report

Interpretive Data

Refer to report.

Compliance Category

Note

Hotline History

N/A

CPT Codes

81331; 81265 Fetal Cell Contamination (FCC)

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