Detect Muscular Dystrophy

Sponsored, no-charge genetic testing
and counseling for individuals suspected
of having a muscular dystrophy

 

Patients: Start an order

About muscular dystrophy

  • Muscular dystrophy refers to a group of disorders characterised 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.

Eligibility

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Ordering instructions

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Program eligibility

This program is available to individuals in the US and Canada suspected of having muscular dystrophy with one or more of the following:

  • Progressive muscle weakness

  • Elevated CK levels

  • Presumptive positive DMD from Newborn Screening Program

  • Cardiac or respiratory involvement

  • Calf hypertrophy or pseudohypertrophy

  • Muscle biopsy showing dystrophic changes and/or immunohistochemical evidence for specific muscular dystrophy subtype

  • Family history of muscular dystrophy*

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

Genetic testing with Invitae

The Detect Muscular Dystrophy program offers testing with one of the following options:

Invitae Dystrophinopathies Test

This test is for the dystrophinopathies, a spectrum of muscle diseases that are caused by pathogenic variants in the DMD gene.

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Invitae Limb-Girdle Muscular Dystrophy Panel

This test analyzes genes that are associated with limb-girdle muscular dystrophy — a heterogeneous group of disorders affecting the limb-girdle musculature.

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Invitae Comprehensive Muscular Dystrophy Panel

This panel analyzes genes that are associated with inherited muscular dystrophies.

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Invitae Comprehensive Neuromuscular Disorders Panel

This panel analyzes genes associated with inherited neuromuscular disorders, including muscular dystrophies, myopathies, and congenital myasthenic syndromes.

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*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.

Re-requisition

If the initial results are negative, clinicians will be able to re-requisition to a new analysis for a larger panel within the neurology clinical area within 90 days of receiving the original results for no charge. No new specimen is required.

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Sponsored genetic counseling

Individuals tested through the Detect Muscular Dystrophy program are eligible for post-test genetic counseling to help them understand their test results. This service is provided through GeneMatters, a third-party genetic counseling service, and is made available by Invitae at no charge as part of the program. To schedule a genetic counseling appointment, please contact GeneMatters at 1-866-741-5331 or schedule online at www.gene-matters.com (partner code: MDYS).

Ordering made easy

Clinicians can place an order by follwing the steps below.

Place your order Collect a specimen Results

To place a paper-based order, download the paper order form.

To place an order online:

  1. Sign up for an account and start a new order
  2. Under Test Selection, click on the Partnership Programs tab and enter MDYS in the Invitae Partner Code field
  3. Use the search bar to find and select one of the testing options above
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. Fill out, print, and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen

To collect a specimen:

  1. Order a specimen collection kit
  2. Collect the specimen and ship it back to Invitae
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information, please see specimen and shipping requirements

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

 

Are you a patient?

If you're a patient and believe you are eligible for this sponsored testing program, you can contact Genome Medical, our third-party telemedicine genetics provider, or work with your healthcare provider.

Support every step of the way

Client services

Invitae is available to answer your questions or help you through the testing process.

Contact

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About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae provides clinical-grade, medically actionable genetic information to answer essential health questions across all stages of life.

Disclaimer

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 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 and counseling are available in the US and Canada. 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.