- OHSU Service Code:
- 102-8841
- Lab Section:
- Molecular Diagnostic Center
- Synonyms:
- Dystrophin Full Gene Analysis
- Test Schedule:
- Weekly. Result turnaround time 2-3 weeks.
- Specimen
Requirements:
- 6.0 mL whole blood in EDTA vacutainer tube. For requisition slips.
- Interpretation:
- Professional interpretation required. Detection of dystrophin gene mutation in a female is diagnostic of DMD/BMD carrier status and the potential for manifestations of subtle dystrophin symptoms such as elevated cpk and enlarged calf muscles. An undetectable mutation does not rule out that a female is a carrier of or manifesting symptoms of DMD/BMD.
- Comments:
- Applicable in cases where evaluation of an affected male is not possible. These situations include: 1) a symptomatic carrier female; 2) an obligate female carrier to define the mutation within a family; 3) a female at risk to be a carrier in the absence of an affected male. Genetic counseling is strongly recommended for any family with a history of DMD/BMD. Consultation with the laboratory is preferred before drawing samples. Please call the laboratory at 503-494-5400 for further information.
