Detect Muscular Dystrophy

Sponsored, no-charge genetic testing
and counseling for individuals suspected
of having a muscular dystrophy
Clinicians: Start an order Patients: Get started

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.

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.

Invitae Comprehensive Muscular Dystrophy Panel

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

Invitae Comprehensive Neuromuscular Disorders Panel

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

*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.

Learn more

Family follow-up testing

Invitae offers family variant testing for all blood relatives of patients who undergo testing at Invitae and are found to have a pathogenic or likely pathogenic variant. Our family variant testing reports on the variant(s) that was identified in the original family member, as well as any other pathogenic variant(s) found in the full gene.

If your patient tests positive through the Detect Muscular Dystrophy program, all of his or her blood relatives are eligible for family variant testing. If the relatives choose to participate in the Detect Muscular Dystrophy program, then the orders will be processed through the program. Download the Detect Muscular Dystrophy paper order form.

Ordering made easy

Clinicians can place an order by following the steps below.

Place your order

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

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

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 have options:

Contact Genome Medical
(available in US only)

Schedule a genetic counseling session, by phone or video, with an expert who can review your testing options and place the order. There is a cost associated with the Genome Medical services, which may be covered under your health benefits.

Get started

Discuss the program with your doctor

If you already have a healthcare provider who can place this order, you can download this flyer to take to your own provider.

Download flyer

Find a local genetics provider

Search our genetics providers network to find a provider in your area. Please sign in, or create an account, to connect with our network of professionals. There may be a cost associated with the provider’s services.

Search now

Detect Muscular Dystrophy is offered in partnership with the Muscular Dystrophy Association

For more than 65 years, MDA has committed to transforming the lives of individuals living with neuromuscular diseases through innovations in care and science. To learn more visit www.mda.org or call 1-833-ASK-MDA1.

Sarepta Therapeutics sponsors Detect Muscular Dystrophy 

Sarepta Therapeutics is a sponsor of Detect Musuclar Dystrophy, helping increase access to genetic testing for eligibile patients. 

Explore relevant advocacy organizations

 

 
 

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.