Dystrophin Protein Test

Test Code
100

Test Details


Test code: 100
Type of disorder: Neuromuscular Disorders
Disease(s) tested for: Duchenne/Becker muscular dystrophy (DMD/BMD)
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: Determination of quality and quantity of dystrophin protein in muscle tissue

Typical Presentation: Gowers sign, Male child exhibiting toe-walking, muscle wasting
Methodology: Western Blot
Reference Range: 50-100% of reference

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: 88371(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: Muscle tissue
Specimen Stability: Frozen: 6 months
Specimen Requirements: 10 mg (5 mg minimum) of muscle tissue in a cryovial
Instructions: Flash freeze muscle sample in liquid nitrogen immediately after biopsy, store at -70 C

Shipping Considerations


Transport Temperature: Frozen
Set-up/Analytic Time: 28-42 days

Additional Resources

Letters of Medical Necessity

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