Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA, Fetal
Ordering Recommendation
Prenatal diagnostic test for Angelman syndrome or Prader-Willi syndrome.
New York DOH Approval Status
Specimen Required
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)
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)
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.
Frozen specimens in glass collection tubes.
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.
Note
Hotline History
Hotline History
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 |
Aliases
- Prader-Labhart-Willi Syndrome