DMD Duplication 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 deletion/duplication testing of the DMD gene include confirmation of a diagnosis or carrier status 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
  • Mother or female relatives of an affected patient to determine carrier status

 
GENETICS CENTER DUCHENNE MUSCULAR DYSTROPHY TESTING METHODS:

  • 79 exons and 1 promoter region were amplified by multiplex ligation-dependent probe amplification (MLPA). MLPA products are then analyzed by capillary electrophoresis.

 
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:

 
TEST LIMITATIONS:
 
The result of this testing should always be interpreted with available information about the patient’s clinical presentation and family history. A negative result for a female carrier reduces but does not completely exclude the possibility that the tested individual could be a carrier of DMD. This assay does not detect single nucleotide substitutions or point mutations in the DMD gene. If full sequencing of the DMD gene is requested, please [click here] for further details.
 
CPT CODES:

  • 2013 CPT: 81161