Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication

Casandra

Casandra Test Code AR59671Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2011235CPT Code 81161

Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication

Also known as: DMD DD

Clinical Use

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Use

This test is an appropriate first-tier genetic test for diagnostic testing or carrier screening for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). It helps identify large exon deletions or duplications in the DMD gene, which are a common cause of these conditions. The test is particularly recommended when a familial deletion or duplication has already been identified. For such cases, this analysis aids in confirming diagnosis or carrier status. Although this test does not detect small sequence variants, it remains a critical tool in the initial assessment of DMD/BMD genetic testing.

Special Instructions

Counseling and informed consent are recommended for individuals undergoing genetic testing. Special consent forms are required for patients from New York, and these must accompany the test order. Specimen requirements differ slightly for New York state clients, who must provide a minimum of 5 mL whole blood and adhere to refrigerated transport conditions.

Limitations

This test does not detect base pair substitutions, small deletions/duplications, deep intronic mutations, or mutations in regulatory regions. Additionally, single exon deletions/duplications may go undetected depending on breakpoint positions. Breakpoints for large deletions/duplications will not be precisely determined. As with all genetic tests, diagnostic errors can occur due to rare sequence variations. It is crucial to complement results with thorough clinical evaluations and family history assessments. Consideration of sequence-based testing is advised for cases where symptoms persist but no deletions/duplications are detected.

Test Details