Diagnostic Testing

WHO IS ELIGIBLE?

Decode Duchenne provides free genetic testing to individuals who:

  1. Have a confirmed or suspected diagnosis of Duchenne or Becker muscular dystrophy; and
  2. Are citizens or legal residents of the United States or Canada.

FOR PROVIDERS TO PROCEED WITH TESTING

Please note: An application is not needed for diagnostic testing. Click the link below to go directly to the PerkinElmer website and order your patient’s test. You can also download the Decode Duchenne test requisition form.

Click here to order Diagnostic testing >

FOR PATIENTS

Get started by downloading this flyer to take to your local healthcare provider so they can coordinate genetic testing for you or your family member.

Learn more by reading the Frequently Asked Questions for Patients.

TESTING PROVIDED

All testing is performed at our designated laboratory, PerkinElmer Genomics.

  • Genetic Testing: Testing provides detection of deletions, duplications, and smaller point mutations in the DMD gene via next generation sequencing (NGS). The program can also provide targeted testing for individuals with a positive family history, and repeat testing for individuals tested with older molecular technologies. The Decode Duchenne genetic counselors can help determine which tests are needed.
  • Serum Creatine Kinase: Serum CK kinase testing can also be ordered through the Decode Duchenne program. For information on CK testing and its’ benefits, click here.
  • RNA Sequencing: If a patient has undergone genetic testing and a causative genetic variant has not been identified, they may qualify for RNA sequencing. This testing is currently offered on a research basis, and requires a muscle biopsy sample. Providers may reach out to the Decode genetic counselors to discuss if their patient would be eligible for this testing. Download PerkinElmer’s RNAseq Info Sheet to learn more.

ADDITIONAL SERVICES

  • 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 and supported by PTC Therapeutics, Vertex Pharmaceuticals, and NS Pharma. Click here to review PPMD’s policy on corporate support.