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Test Code 1773

Dystrophinopathy via the DMD Gene

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD)
  • Individuals with negative DMD/BMD testing by multiplex PCR, MLPA, or Southern blot
  • Females with a family history of DMD/BMD who may be carriers, when the specific variant information is unknown
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
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