Detect Muscular Dystrophy

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

  • CANADA

  • ARGENTINA

  • AUSTRALIA

  • BRAZIL

  • CHILE

  • COLOMBIA

  • MEXICO

Program eligibility

This program is available to individuals in eligible countries 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.

**For eligible countries outside of the US and Canada, this program also offers the Invitae Spinal Muscular Atrophy Panel and the Invitae Spinal Muscular Atrophy STAT Panel.  

How to order (US and Canada)

1. Submit an order

To place your online order, click here and follow the on-screen prompts
To place a paper-based order, download the paper order form and include it in the specimen box.

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information. If you chose to do a paper-based order, include the completed paper order form in the box with the specimen.

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Country-specific program materials:

United States, Canada, and Australia:
Test Requisition Form (US & Canada)
Test Requisition Form (Australia)*
Informed Patient Consent (English - US only)
Informed Patient Consent (English -  Outside US)
Program Flyer (English)

*To order a test kit in Australia, please send an email to apac@invitae.com with the requested kit type (saliva, blood, buccal), number of kits requested, sponsored testing program name, clinician name, email, phone number and address. If you're interested in shipping a saliva kit directly to a patient, please specify that in your email and include the patient's name and address.

Brazil:
Formulário de Solicitação em papel (Português)
Formulário de Consentimento Informado do Paciente (Português)
Folheto/Panfleto do Programa e Instruções para Pedidos no Brasil (Português)

Argentina, Chile, Colombia, Mexico:
Formulario de Solicitud de Prueba (Español)
Consentimiento Informado del Paciente (Español)
Folleto del Programa y Instrucciones de Pedido (Español)

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
Detect Muscular Dystrophy includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add rerequisition”

Family variant testing for familial insights

If a positive result is identified, testing for your patient’s family members is available.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.

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 no cost for Genome Medical services through the Detect Muscular Dystrophy program.

Discuss the program with your doctor

If you already have a healthcare provider who can place this order, you candownload this flyer (English | Portuguese | Spanish) to take to your own provider.

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.

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.

Sanofi Genzyme sponsors Detect Muscular Dystrophy (Australia)

Sanofi Genzyme is a sponsor of Detect Musuclar Dystrophy, helping increase access to genetic testing for eligibile patients in Australia. To learn more visit https://sanofigenzymeonline.com.au/.

Sarepta Therapeutics sponsors Detect Muscular Dystrophy (US & Canada)

Sarepta Therapeutics is a sponsor of Detect Musuclar Dystrophy, helping increase access to genetic testing for eligibile patients in the US and Canada. To learn more, visit https://www.sarepta.com/

Zogenix

Zogenix sponsors Detect Muscular Dystrophy (US)

Zogenix is a sponsor of Detect Musuclar Dystrophy, helping increase access to genetic testing for eligible patients in the US. To learn more, visit https://www.zogenix.com/.

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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 is available in the US, Canada, Argentina, Australia, Brazil, Chile, Colombia, and Mexico. 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.