Prader-Willi/Angelman Syndrome Methylation Molecular Analysis
Methylation-specific polymerase chain reaction studies for Prader-Willi syndrome and Angelman syndrome, DNA deletion and uniparental disomy studies for Prader-Willi and Angelman syndromes
EPIC: LAB7157, SOFT: GPWAG
Transport 5 mL of peripheral blood (Minimum: 30.0 mL). If the specimen will not be received at the testing laboratory within 48 hours of collection, transport refrigerated. Do not freeze the specimen.
Specimen Collection Criteria
Collect: 5.0 mL peripheral blood in a lavender top EDTA tube, (Minimum: 3.0 mL)
A copy of the requisition must be sent with the specimen.
Physician Office/Draw Specimen Preparation
Do not freeze specimen or centrifuge the specimen. Maintain specimens at room temperature (20-25°C or 68-77°F) prior to transport. For delays in transport (greater than 48 hours from the time of collection), refrigerate (2-8°C or 36-46°F).
Preparation for Courier Transport
Transport: Whole blood at room temperature (20-26°C or 68-78.8°F) or refrigerated (2-8°C or 36-46°F). (Minimum: 3.0 mL)
- Specimens arriving in the laboratory 4 days or more following the original collection date.
- Frozen specimens.
- This test will only be performed once in a lifetime.
Do not freeze specimen. Maintain specimens at room temperature (20-25°C or 68-77°F) prior to transport. For delays in transport (greater than 48 hours from the time of collection), refrigerate (2-8°C or 36-46°F).
Specimens are processed immediately upon delivery to the Cytogenetics Laboratory.
Specimen Stability for Testing:
Room Temperature (20-26°C or 68-78.8°F): 7 days
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable
Specimen Storage in Department Prior to Disposal:
Extracted DNA is stored for one year.
Royal Oak Cytogenetics Laboratory
Once a week
Results are available within 10-14 days of receipt in the laboratory.
Positive for Prader-Willi Syndrome or Angelman syndrome/Normal chromosome 15q11q13 methylation pattern. An interpretative report will be provided.
Methylation-sensitive PCR analysis of the SNRPN gene.
Abnormal chromosome 15q11q13 (SNRPN gene) methylation pattern consistent with either Prader-Willi or Angelman syndrome.
This is a diagnostic test for Prader-Willi and Angelman syndromes by DNA analysis.
81331. SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide and ubiquitin protein ligase E3A) Prader-Willi-syndrome and/or Angelman syndrome methylation analysis.
Cytogenetics Laboratory – RO
Microtainer® and Vacutainer® are registered trademarks of Becton, Dickinson and Company.
UroVysion® is a registered trademark of Abbott Laboratories. ThinPrep® is a registered trademark of Hologic, Incorporated.
This directory currently reflects information only for specimens collected and/or processed at the
Farmington Hills, Grosse Pointe, Royal Oak, and Troy campuses.