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Musculoskeletal / GeneticsDuchenne Muscular Dystrophy (DMD)Becker Muscular Dystrophy (BMD)

Comprehensive DMD testing

NGS panel analyzing 133 neuromuscular genes to evaluate muscular dystrophies and myopathies (e.g., DMD, RYR1, TTN, LMNA, LAMA2, COL6A1-3, CAPN3, DYSF).

Accessed through the Decode Duchenne Sponsored Testing Program•Sponsored by Sarepta Therapeutics, Parent Project Muscular Dystrophy•Performed by Revvity Omics, Inc.

Designed to help patients understand the purpose of testing and what to expect.

For patients

What this test and program do

If your child or a family member is showing signs of Duchenne or Becker muscular dystrophy, getting a clear genetic answer is one of the most important steps you can take. Decode Duchenne is a sponsored testing program that provides comprehensive genetic testing at no cost to you. The program is run in partnership with Parent Project Muscular Dystrophy and performed by Revvity Omics, with support from Sarepta Therapeutics, so your family never sees a bill for the test. A confirmed genetic diagnosis can open the door to targeted care, clinical trials, and a clearer understanding of what to expect, making this a step well worth taking.

Who this may help

Could this be right for you or your family?

  • To qualify, all of the following must be met:
    • The patient lives in the United States or Canada
    • At least one of these is true for the patient:
      • The patient has a suspected or confirmed diagnosis of Duchenne or Becker muscular dystrophy
      • The patient has elevated creatine kinase (CK) levels
      • The patient had a positive newborn screen
    • The patient has the condition themselves (this program is not for carrier screening of unaffected people)

What to expect

How the process works

  1. 1

    Choose & order

    Your clinician confirms this program fits your situation and completes the Decode Duchenne requisition and consent.

  2. 2

    Provide a sample

    You’ll give a blood, saliva, or dried blood spot sample using the kit; the clinic handles labeling and shipping.

  3. 3

    Get results

    Your clinician receives results in about 14–21 days and explains what they mean; genetic counselors are available if needed.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

Testing is performed by Revvity Omics, Inc., a CLIA-certified laboratory (CLIA 39D0673919). Your sample is processed using validated methods and quality controls to support reliable genetic results.

Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.

FAQ

Common questions about this program

What is the Decode Duchenne genetic testing program for Duchenne muscular dystrophy?

Decode Duchenne is a sponsored program that provides comprehensive genetic testing for people suspected of having Duchenne or Becker muscular dystrophy. The program is administered in partnership with Parent Project Muscular Dystrophy and testing is performed by Revvity Omics, Inc. It is available to individuals in the United States, and a healthcare provider places the order on your behalf.

Is Decode Duchenne testing really free, and who pays for it?

Yes, Decode Duchenne testing is completely free to you and your family. The cost of testing is covered by the program's sponsor, Sarepta Therapeutics, so there is no bill, no copay, and no deductible. You will never be asked to pay anything for the genetic test itself.

What kind of sample is needed for the Decode Duchenne genetic test?

Decode Duchenne accepts several sample types, including a dried blood spot, a regular blood draw, a buccal swab (a gentle cheek swab), or extracted DNA. Your doctor's office will choose the most convenient option and collect the sample during a visit. The process is straightforward and your care team will walk you through it.

How long does it take to get results from Decode Duchenne testing?

Results from Decode Duchenne are typically available within 2 to 3 weeks after the lab receives your sample. Your ordering clinician will review the results with you and explain what they mean for your family. If you have questions while waiting, genetic counseling resources are also available through the program.

Is genetic counseling available through the Decode Duchenne program?

Yes, genetic counseling resources are available as part of the Decode Duchenne program. A genetic counselor can help you understand what the test results mean, how Duchenne or Becker muscular dystrophy is inherited, and what options may be available for your family. Your ordering clinician can also help connect you with these resources.

What does the Decode Duchenne genetic test look for in Duchenne muscular dystrophy?

The Decode Duchenne test starts with comprehensive analysis of the DMD gene, including sequencing and deletion/duplication testing. If those initial results are not diagnostic, the test automatically expands to a broader neuromuscular panel covering 133 genes. This layered approach helps maximize the chance of finding a clear genetic answer for your family.

Who qualifies for Decode Duchenne Duchenne Muscular Dystrophy genetic testing?

Patients may qualify for Decode Duchenne if they meet the program's eligibility criteria:

  • You have a known or suspected diagnosis of Duchenne or Becker muscular dystrophy, or a high creatine kinase (CK) level your clinician wants to evaluate.
  • If you’re being tested because of a family history of DMD/BMD, your clinician should contact the Decode Duchenne team to ensure the correct test is ordered.
  • This portal is not for carrier testing; ask your clinician about separate options.

Test details

  • Formal test nameComprehensive DMD testing (Seq & Del/Dup) with auto-reflex to DD4035 Neuromuscular Panel if non-diagnostic
  • ConditionsDuchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD)
  • Test typeLarge NGS Panel
  • Test codeDD4045
  • Genes / markers
    133
  • Key genes / markersDMD, RYR1, TTN, LMNA, LAMA2, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FKRP, NEB, ACTA1, FLNC, SELENON (SEPN1)
  • SpecimenDried blood spot (DBS)•Whole blood•Buccal swab•gDNA
  • Turnaround time2-3 Weeks
  • LabRevvity Omics, Inc.
  • Program regionUnited States, Canada

Next steps

Share this information with your musculoskeletal specialist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Revvity Omics, Inc..

Questions to ask your doctor about Comprehensive DMD testing

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

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