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 |
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Interpreting genetic test results involves understanding whether a genetic change is positive (indicating a potential health risk), negative, or uncertain in significance. It’s important to discuss these results with a healthcare professional to understand their impact on your patient’s health and any necessary next steps.
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