Genomic Unity® DMD 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® Exome  Plus Analysis.

checkmark Sequencing analysis of the DMD gene

checkmark Del/dup analysis of the DMD gene

Optionally includes:

checkmark Reflex to Genomic Unity® Exome Plus Analysis

DMD

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

Structural variants:
96% clinical sensitivity

81161x1, 81408x1

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 ~8 weeks from sample receipt.

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