Dystrophin Gene Mutation Analysis

Duchenne and Becker Muscular Dystrophy

Identification of causative mutations in the dystrophin gene for families with suspected Duchenne or Becker muscular dystrophy can provide an accurate diagnosis without the need for muscle biopsy. Mutation detection in an affected individual permits very accurate determination of carrier status of at-risk females in these families and provides options for prenatal diagnosis. To identify the mutation in a Duchenne or Becker muscular dystrophy family, a blood sample is required from an affected individual (proband). Because large deletions or duplications in the dystrophin gene are found in approximately 60% of patients diagnosed with Duchenne or Becker muscular dystrophy, the gene deletion analysis is initially performed on samples from patients with these diseases. For patients without a large deletion, full mutation analysis of the dystrophin gene is performed. After a mutation is detected in a proband, carrier testing and prenatal diagnosis may be offered to the family. In cases in which a proband is not available for testing, analysis may be performed on a sample from an obligate carrier.

FAQ: Can I test a female for DMD?

To open a printable assay summary in a new window, click the link below.

Duchenne and Becker Muscular Dystrophy (Dystrophin Gene) Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF).