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Our genetic testing program

Home / Our genetic testing program
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Lowering barriers to genetic testing for FSHD

Currently, one of the eligibility criteria for volunteering in an FSHD clinical trial is positive confirmation of the disease by a clinically approved genetic test. Unfortunately, many patients and families who are trying to get tested have faced barriers, from doctors who don’t know how to order the test to insurance companies that balk at paying for it. The lack of accessible and affordable genetic testing is a disservice to patients as well as an obstacle to having a “trial-ready” community.

In response to this challenge, the FSHD Society, in collaboration with industry sponsors, is establishing a clinically approved genetic testing program for the FSHD community in the US. Our TestFSHD program will include certified genetic counseling and testing. Test results will become part of your medical record, which can help you to obtain services you need. In some instances, having the genetic diagnosis on your medical record could have an impact on the ability to obtain long-term disability insurance or life insurance. The genetic counselor can help you decide if genetic testing is right for you.

Are you eligible?

  • This is a pilot program, and the free test is available only to the first 150 eligible participants 
  • You must be between the ages of 18 and 65 and be a US resident
  • You must have FSHD symptoms as determined by your doctor or based on a known family history of FSHD.

Other options are available

If you do not meet the criteria above, or if the Society's funding for this pilot program has run out, you can still get tested through the process that we have set up. The only difference is that the services involved (genetic counseling and test-ordering, the blood draw, and genetic testing) will need to be paid for, either by your insurance or out of pocket. Just contact Genome Medical through the link provided above, and their genetic counselor will guide you.

The FSHD Society is grateful for the generous support from Arrowhead Pharmaceuticals, Avidity Biosciences, Dyne Therapeutics, Fulcrum Therapeutics, and Pfizer to make the TestFSHD program available to our community.

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Free genetic testing is also currently available as part of a research study through Peter Jones’ nonprofit organization, myfshd.org. For those who wonder if they may have FSHD, this can be a good option. However, it is still undergoing validation and does not yet satisfy existing eligibility criteria for clinical trials.

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What to expect

  1. Click on the link above to visit the Genome Medical portal. Create an account to make your appointment with a genetic counselor. Typically, you should be able to schedule a time within 7-10 days.
  2. After your appointment with the genetic counselor, if you qualify for the free test, a blood collection kit will be mailed to you within 7-10 days.
  3. Make an appointment with LabCorp for the blood draw; bring the test kit with you.
  4. In 6-8 weeks after your blood draw, you should receive an email from Genome Medical to schedule your appointment to receive the test results.
Flow chart showing how FSHD Society educates about the genetic testing program, sends patients to Genome Medical for genetic counseling and a medical referral for genetic testing; the patient is linked to a phlebotomy service for a blood draw; the blood test kit is sent to a testing lab, the results are returned to Genomic Medical which reports the findings to the patient. Finally, the patient is referred to the FSHD Society for additional information and support.