Tests and Diagnosis

What tests are used to diagnose fragile X syndrome?

In order to identify fragile X syndrome, doctors will take a sample of your child’s DNA,which is usually done through a blood test. That sample is sent to a lab for testing to identify if there is a genetic mutation in the FMR-1 gene’s DNA.

This blood test can also tell if someone has a premutation in their FMR-1 gene. If so, that person is a carrier for fragile X syndrome who may pass it on to their own children.

Learn about our research efforts and clinical trials for fragile X.