Decode Duchenne can provide FREE carrier testing to individuals who:
- Are asymptomatic (showing no symptoms) and have a relative with Duchenne or Becker muscular dystrophy who has a known mutation (variant) from previous genetic testing. (Individuals with a family history but no known genetic variant will be considered on a case-by-case basis); and
- Are citizens or residents of the United States or Canada.
TO PROCEED WITH CARRIER TESTING:
- Providers – Please complete our Decode Duchenne application for each patient interested in carrier testing.
- Patients – Download this flyer to take to your local healthcare provider so they can coordinate genetic testing for you or your family member.
Decode Duchenne provides free carrier testing at our designated laboratory, PerkinElmer Genomics. Healthcare providers must provide the known familial mutation (variant) on the application form, and must submit a copy of the affected proband’s genetic test report to PerkinElmer. If the familial variant is not known and the proband cannot be tested, PerkinElmer will proceed with full DMD gene analysis via next generation sequencing (NGS). The Decode Duchenne genetic counselors can help determine which tests are needed.
- Sample shipping: Specimen collection kits (saliva, blood, or dried blood spot cards) with free return shipping are available
- Genetic counseling: Decode Duchenne genetic counselors are available to answer questions about genetic testing for Duchenne, regardless of whether or not the participant or provider has used the Decode Duchenne program. Common topics that the Decode Duchenne genetic counselors discuss include:
- Testing for other family members
- Interpreting test results, including determining if a person’s genetic change would be amenable to mutation-specific therapies
- Reviewing the inheritance of Duchenne and risks of recurrence in a family, as well as testing options for future pregnancies
- Identifying educational and community support resources
NEED HELP?Contact a Decode Duchenne Genetic Counselor >
|Decode Duchenne is administered by Parent Project Muscular Dystrophy and The Duchenne Registry. Decode Duchenne is presented by Sarepta Therapeutics, Founding Partner; and supported by PTC Therapeutics, Vertex Pharmaceuticals, and NS Pharma. Click here to review PPMD’s policy on corporate support.|
Presented by Founding Partner