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Laboratory:

Genomics

Test Name:

DYSTROPHINOPATHIES (DMD, BMD) - (B)

Test Code: MD

Clinical Information:

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:
www.ncbi.nlm.nih.gov/bookshelf/br.fcgi

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

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.

Referral:

Requisition:

_SH Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report from the referral laboratory will be forwarded to the physician.

Availability:

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.