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Limb-Girdle Muscular Dystrophy (LGMD)

LGMD Genetic Testing Program

In 2015, with support from Sanofi Genzyme, MDA launched the limb-girdle muscular dystrophy (LGMD) genetic testing program in partnership with EGL Genetics. Since then, more than 2,800 people have submitted DNA samples through MDA Care Centers and MDA Care Affiliates to EGL Genetics for testing.

Through this program, individuals with limb-girdle muscle weakness can be tested to find out if they have one of the known subtypes of LGMD or any of a number of other disorders that can sometimes cause similar symptoms (such as Emery-Dreifuss muscular dystrophy or Bethlem myopathy, for example).

The test is an important first step for anyone living with limb-girdle muscle weakness who has not received a definitive genetic diagnosis. That’s why MDA and Sanofi Genzyme are proud to work together to continue offering MDA’s LGMD genetic testing program.

FAQ

What is the LGMD genetic testing program?

MDA’s LGMD genetic testing program is designed to help determine specific types of LGMD or to help diagnose related diseases that sometimes may be mistaken for LGMD.

Why is it important to get a genetic diagnosis?

Genetic testing is important because a definitive diagnosis is the first step to effectively managing an individual’s neuromuscular disease. It can ensure the most appropriate treatment strategy, best outcomes and access to clinical trials or disease-specific patient registries.

How much will it cost to have genetic testing done?

Through this program, individuals registered with MDA for support and services who have limb-girdle muscle weakness will not be charged to receive LGMD gene panel testing. Note: the program does not cover the costs of appointment copays or any recommended follow-up genetic tests.

Will my insurance be billed for the test?

No, your insurance will not be billed for this test. The cost of the panel test will be covered by the Sanofi Genzyme grant supporting this program. Your insurance may be billed for copays or other costs associated with your appointment with your clinician.

How is the LGMD genetic test performed?

The simple test requires only a saliva or blood sample, which can be collected at any one of MDA’s Care Centers or Care Affiliates or by your local physician. From there, it is sent to EGL Genetics, and within three to four weeks, results are returned to the physician, who then shares the findings with individuals and their families.

What can the test identify?

Test results can help identify whether an individual has one of the known subtypes of LGMD or one of a number of other neuromuscular diseases that can present with similar symptoms.

What will I need to do?

If you suspect you may have limb-girdle muscle weakness but do not have a confirmed genetic diagnosis, speak with your physician. Schedule an appointment at your local MDA Care Center, Care Affiliate or local physician to complete the testing, which requires only a single saliva or blood sample. You also can reach out to your local MDA Family Care Specialist to inquire about the testing process.

If I have already participated in the testing program, can I retest if I did not get a definitive result?

At this time, the program is only open to individuals who have not previously submitted DNA samples for testing.

What if I have questions about the testing process or about results?

Be sure to consult with your physician or genetic counselor if you have questions about the testing process or about results. Once a person undergoes the testing, results are returned to the physician within three to four weeks. The physician will then share the findings with the individual and their family.

Must I be registered with MDA to qualify to be tested?

You must be registered with MDA to receive MDA’s LGMD genetic testing service. To register, contact the MDA National Resource Center at 800-572-1717 or resourcecenter@mdausa.org.

For more information

To find an MDA Care Center near you, visit mda.org, and type your state or ZIP code in the box and select “Find MDA in Your Community.”

For questions and one-on-one support with one of our trained resource specialists, contact the MDA National Resource Center at 800-572-1717 or resourcecenter@mdausa.org.

To read about one individual’s experience with the LGMD genetic testing program, see Genetic Testing Provides Answers and Hope.

MDA is grateful to Sanofi Genzyme for its support of our LGMD awareness activities and the testing program.

Looking for more information, support or ways to get involved?