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Testing for Duchenne

Unfortunately, once a child is born with Duchenne, its progression cannot be stopped. However, once there is a known case of Duchenne within a family, it is possible to offer prenatal diagnoses in future pregnancies (for both the mother of the diagnosed child and for other women in the family) through genetic testing.

Genetic testing

Genetic testing refers to analysis of the gene itself, and it identifies the specific disease causing mutation. Genetic testing can also predict a person’s risk of developing a disease. For expectant mothers, genetic studies performed during pregnancy can detect Duchenne with about 95% accuracy. Doctors may make recommendations about childbearing options.

Before testing, families should understand:

  • What test is being ordered
  • Why it was chosen
  • How long it takes for results to come back
  • What the next step might be if the test is negative
  • How much the test costs, and whether it is covered by their insurance

Visit for more information about testing and counseling options.

Have you had trouble getting genetic testing?

Through Decode Duchenne, PPMD's DuchenneConnect program provides genetic testing to Duchenne and Becker muscular dystrophy patients who have been unable to access genetic testing in the past due to financial barriers. Decode Duchenne is sponsored by Sarepta Therapeutics. View the Decode Duchenne participation requirements.

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