Our genetic testing program

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, has established 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.

Program on Pause

Thank you for your interest in TestFSHD.  Due to great interest and demand by the FSHD community, the fully sponsored genetic testing program has reached capacity, and at this time, we are unable to accommodate additional testing.  We are however, transitioning the program to coverage by insurance and/or self-pay.  Please revisit the page later as the new procedures get implemented.

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Free genetic testing is 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 not a clinically approved test and does not satisfy current eligibility criteria for clinical trials.