Genomic Unity® DMD Gene Analysis

Duchenne muscular dystrophy, the most common and severe form of muscular dystrophy, is caused by variants in the DMD gene that result in deficiency of the dystrophin protein.

Becker muscular dystrophy, which is less severe, is also caused by variants in the DMD gene that reduce but do not eliminate dystrophin production.

Order this test when the patient presents with symptoms of muscle weakness consistent with Duchenne muscular dystrophy or Becker muscular dystrophy and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

For a broader analysis of genes associated with additional muscular dystrophies (Duchenne and Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy, Ullrich congenital muscular dystrophy, Walker-Warburg syndrome and other congenital muscular dystrophies), you may want to consider ordering Genomic Unity® Muscular Dystrophy Analysis.

  • Sequencing analysis of the DMD gene
  • Del/dup analysis of the DMD gene

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

DMD

SNVs and Indels up to 50bp
99.7% sensitivity
99.5% positive predictive value

Structural variants:
96% clinical sensitivity

Disorders that can be tested for include:

Becker muscular dystrophy
Duchenne muscular dystrophy

81161, 81408

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.