Prader-Willi Syndrome (Methylation) DNA Test

OHSU Service Code:

102-8852

Lab Section:

Molecular Diagnostic Center

Includes:

PRADER-WILLI METHYLATION

Specimen
Requirements:

6.0 mL blood in EDTA vacutainer tube. For requisition slips.

Pediatric Specimen
Requirements:

2 mL blood in EDTA vacutainer tube.

Reference Range:

Reference Range:
PWS is associated with the functional loss of inprinted genes located in the paternally derived 15q 11-q13 region. This is most commonly the result of either a paternal deletion of the 15q 11-q13 region (75% of cases) or maternal uniparental disomy for chromosome 15 (25% of cases).

Interpretation:

Professional interpretation of the methylation status of the small ribonucleoprotein associated polypeptide N (SNRPN) gene determines normal/disease states.

Comments:

Southern blot analysis of genomic DNA digested with specific restriction enzymes is used to assess imprinting and uniparental disomy of the 15q 11-q13 region.

Please call the lab at 503-494-5400 for further information or requisition forms.