No-Charge Genetic Testing Partnership for Muscular Dystrophy Community Announced


In addition to no-charge testing, patients may have access to the Detect Muscular Dystrophy program, a counseling program designed to aid health decisions and follow-up care.

Robert Nussbaum, MD

Robert Nussbaum, MD

Through a partnership with the Muscular Dystrophy Association (MDA), Invitae, a leading medical genetics group, announced they will be offering no-charge genetic testing to patients through the Detect Muscular Dystrophy program in MDA’s care center network.

The company noted that its ultimate goal with this no-charge testing initiative is to hopefully increase the utilization of genetic testing, which has been shown to shorten the time of diagnosis by as much as 2 years for some conditions. Additionally, an earlier diagnosis enables clinicians to provide more accurate disease-specific care sooner, thus ultimate lowering costs and improving outcomes.

"Genetic testing can expedite making an accurate diagnosis, facilitate earlier interventions, allow genetic counseling of family members, and support clinical research into muscular dystrophies, including Duchenne and Becker muscular dystrophies, and also many other forms of muscular dystrophy," Robert Nussbaum, MD, chief medical officer, Invitae, said in a statement.

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Patients in the US and Canada suspected of having muscular dystrophy may be eligible for the program if they have 1 or more of the following:

  • Progressive muscle weakness
  • Elevated creatine kinase (CK) levels
  • Presumptive positive DMD from Newborn Screening Program
  • Cardiac or respiratory involvement

Additionally, those with calf hypertrophy or pseudohypertrophy, muscle biopsy showing dystrophic changes and/or immunohistochemical evidence for specific muscular dystrophy subtype, family history of muscular dystrophy may also qualify.

The program is not intended for carrier screening of unaffected individuals. Those with facioscapulohumeral muscular dystrophy type 1 (FSHD1), oculopharyngeal muscular dystrophy (OPMD), or myotonic dystrophy types 1 and 2 will not be tested through this program.

Patients in the program will also have access to the Detect Muscular Dystrophy program additional post-test genetic counseling to help patients further understand test results and make more informed decisions about their health and follow-up care. More notably, family members of those in the Detect Muscular Dystrophy program who have genetic variants associated with the disease may be offered genetic testing as well.

Enrollment into Invitae’s sponsored testing programs can be done through a patient’s clinician. For more information, patients can turn to

"By bringing this program to our care centers, we can make it easier for patients to get tested, moving them one step closer to the care they need," Lynn O’Connor Vos, president and chief executive officer, Muscular Dystrophy Association, said in a statement.


Invitae and Muscular Dystrophy Association (MDA) expand access to no-charge genetic testing in the US and Canada [news release]. San Francisco, CA: Invitae; Published March 23, 2020. Accessed March 25, 2020.

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