Genetic Testing

Diagnostic testing for Duchenne and Becker muscular dystrophy entails either,
dystrophin protein analysis of muscle tissue or
molecular genetic testing.

Many providers and families opt for genetic testing on a blood sample instead of (or at least before) dystrophin testing in muscle tissue. In addition to the benefit of avoiding muscle biopsy, many providers and families appreciate the growing importance of a known genotype, which may allow:

  • opportunities for involvement in clinical trials,
  • information about genotype/phenotype correlation (e.g., ability to anticipate the course of illness based on the mutation),
  • carrier testing of potential carriers, and
  • prenatal testing.

The majority of dystrophin mutations can be detected from scanning genetic material obtained from a blood sample. There are many genetic testing methods offered by different laboratories. This section describes indications for testing of the dystrophin gene and gives providers the necessary information to develop a logical strategy for genetic testing. Keep in mind that the best strategy for genetic testing varies based on the patient’s medical and family history.

The cost of testing is often covered by insurance, but may require preauthorization.  The turn-around-time for testing varies.  In advance of testing, parents should be informed about the turn-around-time and detection rate.  This prepares parents for the possibility that a result will not be available quickly, as well as the possibility of a negative (uninformative) result, and the subsequent need for additional diagnostic testing. 

If you have questions that are not adequately addressed in this section, please contact our DuchenneConnect Coordinator at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .