Improved, accessible, and affordable FSHD diagnostics

Investigator: Peter L Jones PhD

Category: Research - Clinical

We are validating an accessible and affordable method for diagnosing FSHD using the DNA found in one’s saliva by testing individuals with a clinical diagnosis of FSHD and/or a confirmed genetic diagnosis of FSHD. The testing is based on permissive FSHD genetics and the DNA methylation profiles that are distinct between FSHD1, FSHD2, and healthy or non-FSHD individuals. This testing does not provide the size of an FSHD1 deletion. This procedure is far and away the least costly molecular genetic diagnostic for FSHD and the only FSHD diagnostic procedure that can be performed on DNA isolated from saliva, and thus is the most accessible diagnostic for populations in the US and around the world. Currently, this is being performed as a research test and we hope to eventually be able to offer this in a CLIA-approved setting and to have this testing be recognized as a clinically relevant and acceptable diagnostic.

See related video below: FSHD Saliva DNA Methylation Status Research Diagnostic Test - Peter & Takako Jones Lab.

Related Material

Free FSHD testing at myfshd.org

Progress Report 1

Progress Report 2