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

 

GENETICS CENTER DUCHENNE MUSCULAR DYSTROPHY TESTING METHODS:

  • 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

 
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.
  • Shipping: Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.

 

Send to:

Genetics Center
211 S. Main Street
Suite AA
Orange, CA 92868
Tel: (714)288-3500

 

REQUIRED FORMS:

 

CPT CODES:

  • CPT’s: 81161, G0452