Detect Muscular Dystrophy Program
Sponsored, no-charge genetic testing
US
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.
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 ProgramOr progressive muscle weakness
Or muscle biopsy showing dystrophic changes and/or immunohistochemical evidence for specific muscular dystrophy subtypeOr calf hypertrophy or pseudohypertrophy
Or cardiac or respiratory involvement
How to order
Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.
Step 1
Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal or order form.
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.
Step 3
Receive results online and access resources to guide your discussion with patient about their results.
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.
Our partners love working with us
Detect MDYS is offered in partnership with the following sponsors:
