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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 support clinical decision-making and ordering in your practice.

For healthcare providers

Overview

Decode Duchenne provides no-cost, NGS-based genetic testing for patients with suspected Duchenne or Becker muscular dystrophy. Initial testing targets the DMD gene with sequencing and deletion/duplication analysis; non-diagnostic cases automatically reflex to a 133-gene neuromuscular panel, eliminating the need for a separate follow-up order. Sponsored by Sarepta Therapeutics, performed by Revvity Omics, and administered with Parent Project Muscular Dystrophy, the program removes financial barriers to a definitive molecular diagnosis that can inform treatment selection and trial eligibility.

When to consider this test

Patient selection

  • To qualify, all of the following must be met:
    • Patient is located in the US or Canada
    • Meets at least one indication for testing:
      • Suspected or confirmed diagnosis of Duchenne or Becker muscular dystrophy
      • Elevated creatine kinase (CK) levels
      • Positive newborn screen
    • Testing is for an affected individual (not carrier screening of an unaffected individual)

Workflow

How to use this program

  1. 1

    Select & order

    Order diagnostic testing for suspected/known DMD/BMD or elevated CK; complete requisition and consent. For family-history–driven testing, contact Decode Duchenne to confirm the appropriate test.

  2. 2

    Collect & ship

    Collect blood/saliva/DBS; label with patient name and DOB. Include clinical notes, package with requisition/consent, and ship per kit or specimen guidelines.

  3. 3

    Review results

    Expect results in ~14–21 days via Revvity Omics. Review with the patient and consult Decode Duchenne genetic counselors as needed.

Billing overview

Program billing

For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.

Quality & privacy

Laboratory quality & data handling

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

Frequently asked questions

Which patients are appropriate for the Decode Duchenne sponsored testing program?

Decode Duchenne is intended for patients with a clinical suspicion of Duchenne or Becker muscular dystrophy who reside in the United States. Ordering clinicians should assess candidacy based on clinical presentation and the program's eligibility criteria. Placing an order carries no prescribing or purchase obligation.

What does the Decode Duchenne test panel cover and what is the reflex protocol?

The initial assay is comprehensive DMD gene testing including sequencing and deletion/duplication analysis via NGS. If initial DMD-targeted testing is non-diagnostic, the sample automatically reflexes to DD4035, a 133-gene neuromuscular panel, without requiring a new order. This tiered approach maximizes diagnostic yield for neuromuscular presentations beyond classic dystrophinopathy.

What specimen types does Decode Duchenne accept and how are kits obtained?

Decode Duchenne accepts dried blood spot, whole blood, buccal swab, and extracted gDNA. Test kits can be requested directly through the Revvity Omics ordering portal. A test requisition form and specimen collection instructions are available on the program's website to support proper sample handling.

What is the turnaround time for Decode Duchenne genetic testing results?

Decode Duchenne results are typically reported within 2 to 3 weeks from sample receipt at Revvity Omics. Results are returned to the ordering clinician for review and communication to the patient and family.

Is there any cost to the patient or ordering obligation for the clinician with Decode Duchenne?

There is no cost to the patient. Sarepta Therapeutics sponsors the program and covers all testing costs. Ordering does not create any prescribing or purchase obligation for the clinician. Genetic counseling resources are also available through the program at no additional charge.

Are genetic counseling resources available through the Decode Duchenne program?

Yes, Decode Duchenne provides access to genetic counseling resources to support result interpretation and family communication. This is offered as part of the sponsored program through the partnership with Parent Project Muscular Dystrophy and Revvity Omics, at no cost to the patient or ordering provider.

Which patients are eligible for Decode Duchenne Duchenne Muscular Dystrophy genetic testing?

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

  • Known or suspected Duchenne/Becker muscular dystrophy, or elevated CK consistent with DMD/BMD evaluation.
  • If ordering due to positive family history, contact Decode Duchenne (888-520-8675 option 1; [[email protected]](mailto:[email protected]) to confirm the appropriate test—payment may not be provided for incorrectly ordered tests.
  • Not intended for carrier testing; use the carrier-testing workflow.

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

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Revvity Omics, Inc.

Available in: United States, Canada

Order testPrint requisitionOrder collection kitLearn more

Additional Resources

Sample Collection Instructions

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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