Carrier Testing

Decode Duchenne can provide FREE carrier testing to individuals who:

1. Are asymptomatic (showing no symptoms), have a relative with Duchenne or Becker muscular dystrophy, and/or have a family member with a pathogenic DMD variant identified on genetic testing. (Individuals with a family history but no known genetic variant will be considered on a case-by-case basis); and
2. Are citizens or residents of the United States or Canada.

TO PROCEED WITH CARRIER TESTING:

• Providers – Please complete the Decode Duchenne carrier/asymptomatic test requisition form (TRF), and send via secure email to decode@parentprojectmd.org or fax to 404-935-0636. If approved, we will send the TRF to Revvity and the requested collection kit to your office or to the patient’s home. If additional information is required for approval, we will reach out via email or fax.
• Patients – Download this flyer to take to your local healthcare provider so they can coordinate genetic testing for you or your family member.

TESTING PROVIDED

Decode Duchenne provides free carrier testing at our designated laboratory, Revvity Omics. Healthcare providers must provide the known familial variant on the requisition form, and should submit a copy of the proband’s genetic test report with the requisition if available. If the familial variant is unknown and the proband cannot be tested, please reach out to discuss the best way to proceed. If you are unsure of the correct testing to order, you may reference the descriptions below or contact the Decode Duchenne genetic counselors.

Which test option is right for my patient?

• DD006 – DMD Creatine Kinase Activity
  • This test will only measure creatine kinase activity and will require a separate sample for genetic testing options unless a dried blood spot sample is submitted. Please review the sample requirements to confirm sample type required.
• DD4045 – Comprehensive DMD Test
  • Full next generation sequencing of the DMD gene is used for diagnostic testing or in carrier testing cases where the familial variant information is unknown and unable to be determined.
• DD999 – Targeted CNV Analysis
  • Targeted CNV analysis should be used when the familial variant is a deletion or duplication of one or more exons of the DMD gene.
• DD600 – Sanger confirmation and interpretation
  • Sanger sequencing should be used when the familial variant is a point mutation or deletion/duplication smaller than one exon. This type of variant would appear on a genetic testing report as c._ or p._.

ADDITIONAL SERVICES

• Sample shipping: Please choose the preferred sample type (saliva, blood, or dried blood spot cards) on the requisition. All kit types include free return shipping. Saliva kits will be sent directly to the patient, and blood or dried blood spot cards will be mailed to the ordering provider’s office. If you have already collected a sample using a Revvity kit, you may send the sample directly to Revvity. Please include a copy of the requisition with the sample in addition to sending the requisition to us for approval.
• 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 variant-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?

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 NS Pharma. Click here to review PPMD’s policy on corporate support.

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