- OHSU Service Code:
- 102-8838
- Lab Section:
- Molecular Diagnostic Center
- Includes:
- Angelman Methylation
- Test Schedule:
- Upon request with two week result turnaround.
- Specimen
Requirements:
- 6.0 mL blood, EDTA vacutainer tube. For requisition slips.
- Pediatric Specimen
Requirements:
- 2 mL blood, EDTA vacutainer tube.
- Reference Range:
- Angelman Syndrome is linked to the functional loss of imprinted genes located in the maternally derived 15q 11 -q13 region. In 75% of these cases this is the result of a maternal deletion of the 15q 11 -q13 region; paternal uniparental disomy accounts for another 3-7% of cases.
- Interpretation:
- Professional interpretation of the methylation status of the small ribonucleoprotein associated polypeptide N (SNRPN) gene determines normal/affected result.
- Comments:
- Southern blot analysis of genomic DNA digested with specific restriction endonucleases is used to assess imprinting and uniparental disomy of the 15q 11 - q13 region and determine unaffected or disease states. Please call the lab at 503-494-5400 for more information.
