- OHSU Service Code:
- 102-8839
- Lab Section:
- Molecular Diagnostic Center
- Synonyms:
- DMD/BMD; Dystrophin Gene DNA Deletion, Duplication Testing
- Test Schedule:
- Weekly or on demand, result turnaround 3-5 days, STAT testing available.
- Specimen
Requirements:
- 6.0 mL whole blood in EDTA vacutainer tube. For requisition slips.
- Reference Range:
- A dystrophin gene deletion or duplication is diagnostic of DMD or BMD. Absence of a deletion or a duplication does not confirm or rule out a diagnosis of DMD or BMD.
- Interpretation:
- Professional interpretation required. 65% of the DMD/BMD cases are due to a detectable deletion or a duplication of the dystrophin gene at Xp21. Molecular characterization of a deletion or a duplication allows a differential diagnosis of a DMD vs. BMD phenotype.
- Comments:
- DMD/BMD constitute the most common forms of childhood muscular dystrophy. The presence of a deletion or a duplication is diagnostic and allows carrier testing for at-risk female relatives. Genetic counseling is indicated for affected individuals and their families. Please contact the laboratory at 503-494-5400 for more information or to request requisition forms.
