DYSTROPHINOPATHIES (DMD, BMD) - (B)
Test Code: MD
Testing done for confirmation of clinical diagnosis in male patients. For carrier status, prior consultation with the WRHA Genetics and Metabolism Program is strongly recommended. Testing done typically includes common deletions and duplications. Sequencing only considered in certain cases. All out-of-province testing subject to final laboratory approval. For more information on Dystrophinopathies, see:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL
Specimen must be drawn Monday to Wednesday to allow for sample to be shipped as whole blood to an out-of-province laboratory. Keep specimen room temperature. Pediatric volume for infants only. For prenatal diagnosis, contact laboratory for approval and to obtain specimen requirements.
An interpretive report from the referral laboratory will be forwarded to the physician.
Weekdays, Monday to Wednesday only. Specimen is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 8 to 12 weeks.
Sample MUST be drawn and shipped to Health Sciences Centre - MS5 within 24 hours of blood draw and received in laboratory by Wednesday. Do NOT centrifuge. Store and ship specimen at room temperature. Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).