DMD DNA Sequencing Test

Test Code

Test Details

Test code: 183
Type of disorder: Neuromuscular Disorders
Disease(s) tested for: Duchenne/Becker muscular dystrophy (DMD/BMD)
Genes Included: DMD
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information

Clinical Significance: Detects the small mutations in the dystrophin (DMD) gene

Typical Presentation: This test is useful for patients previously tested and found not to have deletions or duplications in the DMD gene. For a new diagnosis, please order the Complete DMD Evaluation.

Indications for testing: Previously tested and found to be negative for DMD deletions and duplications
Methodology: Next Generation Sequencing
Reference Range: No sequence variants detected

CPT Coding

The CPT codes provided are based on AMA guidelines and 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.

CPT: 81408(1)

Specimen Requirements

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Shipping Considerations

Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

Letters of Medical Necessity

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