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.
Not all doctors are familiar with Fragile X
While Fragile X has always been with us, the discovery of its cause and the test for it are relatively new, so not every doctor will be familiar with the condition or the test for it.