Genetic Testing

Healthcare providers should offer genetic testing to all people with Duchenne and Becker muscular dystrophy who have not already had a mutation identified. Genetic testing should proceed in a stepwise process to identify deletions, duplications, or point mutations.

One important reason for having a genetic test result is that it may allow a person to participate in research. Some studies, especially treatment studies, require a specific kind of genetic change for eligibility.

Providers should also offer carrier testing to mothers and adult sisters of people with Duchenne or Becker muscular dystrophy. When genetics services are available, healthcare providers should refer families for genetic counseling. (DuchenneConnect can help when genetic counseling services are not available.)

Before ordering genetic testing, the healthcare provider should help families understand:

  • What test is being ordered
  • What information the test results will give
  • Why it was chosen
  • How long it takes for results to come back
  • What the next step might be if the test is negative
  • The cost for testing and whether insurance will cover the test

Healthcare providers will explain the results of genetic testing. DuchenneConnect can be a resource, too. Further information regarding genetic testing is available on the DuchenneConnect website ( and by contacting the Connect Coordinator.

To learn More:

  • “Diagnosis of DMD” section of the TREAT-NMD recommendations
  • “About Genetic Testing” section of the DuchenneConnect website