Genomic Unity® DMD Analysis

U0005

Genomic Unity® DMD Analysis is a diagnostic test designed to identify genetic variants that cause Duchenne and Becker muscular dystrophies.

Test Description

Genomic Unity® DMD Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on the DMD gene associated with Duchenne and Becker muscular dystrophies.

Genomic Unity® DMD Analysis provides a single, unified clinical report that replaces a battery of tests including: single gene analysis and multiplex ligation dependent probe amplification (MLPA).

When to Order

Order this test when clinical symptoms of muscle weakness are present and consistent with Duchenne muscular dystrophy or Becker muscular dystrophy.

Included Genes

DMD

Included Analyses

  • Sequence analysis of the DMD gene including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of the DMD gene including: duplications/deletions, mobile element insertions, and inversions.

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks. Turnaround time begins when samples and all required documents and approvals are received.

Sample Types

CPT Codes

0218U

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.

Methods and Limitations

Genomic Unity® DMD Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity