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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 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 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.

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 Specimen(s) to:

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

 

CPT Codes

CPT’s: 81161, G0452