Duchenne Muscular Dystrophy Deletion Testing
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked dystrophinopathies caused by mutations in the DMD gene. DMD is characterized by progressive muscle weakness that often presents in early childhood with delayed developmental milestones, proximal muscle weakness, a waddling gait, difficulty climbing, calf pseudohypertrophy, and increased serum concentration of creatine phosphokinase (CK). BMD is characterized by later-onset muscle weakness and a generally milder clinical picture. Cardiomyopathy occurs in individuals with both DMD and BMD.
Reasons for Referral
- Indications for diagnostic duplication and deletion testing of the DMD gene include confirmation of a diagnosis in the following clinical scenarios:
- Males with elevated serum creatine phosphokinase (CK)
- Males with progressive muscle weakness
- Males with gross motor delay of uncertain etiology
- Males with dilated cardiomyopathy of uncertain etiology
- Females with a family history of Duchenne/Becker muscular dystrophy
- Testing is performed for both deletion and duplications within the DMD gene via exon array.
- Both male diagnostic and female carrier testing are available.
- Targeted mutation analysis for a familial DMD point mutation is also available via sequencing analysis – please contact Genetics Center at 714-288-3500 for further information.
Turn Around Time
7 days or fewer
Specimen Requirements and Shipping/Handling
Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).
Saliva: To request a DNA Mouthwash Collection Kit please contact Genetics Center at (714)288-3500.
Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection
Send Specimen(s) to:
211. S Main Street
Orange, CA 92868
CPT’s: 81161, G0452