Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing

Also known as: DMD REFLEX

Clinical Use

Use

This test is the most comprehensive for confirming carrier status or diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). It is particularly useful for identifying pathogenic variants associated with these conditions, which can lead to symptoms such as muscle weakness, cardiomyopathy, and progressive difficulty walking. The test employs deletion/duplication analysis, and reflexes to sequencing if no large deletions or duplications are detected to provide a complete assessment of the DMD gene.

Special Instructions

Not provided.

Limitations

A negative result does not exclude a heritable form of muscular dystrophy. This test only detects variants within the coding regions and intron-exon boundaries of the DMD gene. Regulatory region variants and deep intronic variants will not be identified. Breakpoints of large deletions/duplications will not be determined. Variants greater than 10 base pairs may not be detected by sequencing. The assay may not detect low-level somatic variants associated with disease. Interpretation may be impacted if a patient has undergone allogeneic stem cell transplantation.

Test Details