PPMD’s Decode Duchenne Program:
What to Do if Patient is Currently in Clinic

My patient is in clinic right now, can I obtain a sample before they leave?

Although the Decode Duchenne program requires an application to receive paperwork to proceed with testing, including a test requisition, we don’t want this step to be a barrier or delay for patients you are currently seeing in clinic. If you reasonably believe your patient meets the three criteria below, please go ahead and obtain a sample if possible (see below for samples accepted). Submit the Decode Application the same day. In almost all cases, the required paperwork for sample shipment  will be returned to you the same day.

Samples accepted

Whole blood

  • Blood in EDTA (purple top)
    • Infants (<2 years): 2-3 ml
    • Children (>2 years): 3-5 ml
    • Older children & Adults: 5-10ml
  • If shipping the same day, store at ambient temperature, if storing overnight or more please refrigerate

Saliva

  • Saliva collected with a PerkinElmer Genetics saliva swab kit only, store at ambient temperature

Dried Blood Spot (DBS)

  • Blood collected with a PerkinElmer Genetics DBS kit only, store at ambient temperature

To ensure paperwork is received as quickly as possible, we appreciate your call at 888.520.8675 option 1 to let us know that an application is coming that needs immediate turn-around. If a team member is not available, simply leave a voicemail; you can still be confident in obtaining a sample from your patient blood while they are in clinic.

Decode Duchenne Eligibility Criteria

  1. Have a confirmed or suspected diagnosis of Duchenne or Becker muscular dystrophy OR if you’re an asymptomatic female (showing no symptoms) of an affected relative with a known mutation from previous DNA testing;
  2. Have financial barriers to receiving genetic testing; and
  3. Are citizens or legal residents of the United States or Canada

Additional Services to support your patients:

  • Sample shipping help: Specimen collection kits with free return shipping are available
  • Blood draw reimbursement: Decode Duchenne can reimburse the cost of the blood draw for participants when needed
  • 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, including carrier testing
    • Interpreting test results, including determining if a person’s genetic change would be amenable to mutation-specific therapies
    • Identifying educational and community support resources

 

 

Decode Duchenne is administered by Parent Project Muscular Dystrophy and The Duchenne Registry. Decode Duchenne is sponsored by Sarepta Therapeutics and PTC Therapeutics. Click here to review PPMD’s policy on corporate support.