Testing for Fragile X syndrome

A simple, reliable DNA test can identify affected individuals. Developed in 1992, this blood test (the FMR-1 gene test) can also test whether a person is a Fragile X premutation carrier.

It can be ordered by any physician. The blood sample is then sent to a lab – it usually takes several weeks to get the results.

Fragile X testing should be considered for any individual with otherwise unexplained developmental delay, mental impairment or autism.

For more information about testing, talk to your doctor or a genetic counselor.