Detect Muscular Dystrophy Program

Sponsored, no-charge genetic testing
US

Logo - muscular dystrophy

What is the role of genetic testing for muscular dystrophy (MDYS)?

  • Muscular dystrophy refers to a group of disorders characterized by progressive muscle weakness and loss of muscle tissue. In specific forms, other muscles—including respiratory muscles, cardiac smooth muscles, facial muscles and swallowing muscles—can also be affected.
  • Duchenne muscular dystrophy (DMD) is the most common childhood onset form of muscular dystrophy with a prevalence of about 1 in every 3,000 to 5,000 live male births. Age of onset is usually between 3 and 5 years of age. As a whole, muscular dystrophies affect 1 out of every 4,000 to 5,000 people.
  • Many forms of muscular dystrophy have overlapping clinical features making diagnosis difficult. Genetic testing has been proven to shorten the time to diagnosis and prevent misdiagnosis.
  • Accurate and early identification of affected individuals allows for improved clinical outcomes and the opportunity to participate in clinical trials.
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Program eligibility

This program is available to individuals located in the US who have a family history of muscular dystrophy* or who are suspected of having muscular dystrophy with one or more of the following:

  • Elevated CK levels


    Or presumptive positive DMD from Newborn Screening Program

  • Or progressive muscle weakness


    Or muscle biopsy showing dystrophic changes and/or immunohistochemical evidence for specific muscular dystrophy subtype

  • Or calf hypertrophy or pseudohypertrophy

  • Or cardiac or respiratory involvement

*Please note that this program is not intended for carrier screening of unaffected individuals.

Test options

This program offers testing with one of the following options:

Please note this program does not test for facioscapulohumeral muscular dystrophy Type 1 (FSHD1), oculopharyngeal muscular dystrophy (OPMD), or myotonic dystrophy types 1 and 2.

How to order

Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal or order form.

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and access resources to guide your discussion with patient about their results.

See how it works

Next steps and additional services

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Genetic counseling services

Individuals in the US tested through the Detect Muscular Dystrophy program are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Invitae at no charge as part of the program. Patients can access genetic counseling by using an online scheduling option or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

For your patients

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Detect MDYS is offered in partnership with the following sponsors:

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While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing is available in the US and Canada only. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.