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.
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.
This test is for the dystrophinopathies, a spectrum of muscle diseases that are caused by pathogenic variants in the DMD gene.
This test analyzes genes that are associated with limb-girdle muscular dystrophy — a heterogeneous group of disorders affecting the limb-girdle musculature.
This panel analyzes genes that are associated with inherited muscular dystrophies.
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.
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
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).
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:
To collect a specimen:
To receive results:
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.
Invitae is available to answer your questions or help you through the testing process.Contact
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.
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.