Testing for Fragile X
A DNA test for Fragile X is widely available

This blood test, developed in 1992, is accurate and can detect both carriers and fully-affected individuals. It can be ordered by any physician; the blood sample is then sent to a lab that offers the test. It usually takes several weeks to get the results.

Because the symptoms of Fragile X can be subtle, especially in young children, and because it is so frequent in the general population (1 in 4000 males and 1 in 6000 females), Fragile X testing should be considered for any individual with signs of autism or unexplained developmental delay or intellectual disabilities.

Most major U.S. medical centers offer the Fragile X test. It costs several hundred dollars but is usually covered by health insurance. For more information about testing, talk to your doctor or genetic counselor.
Are there Treatments?

There is currently no cure for Fragile X, although appropriate education and medications can help maximize the potential of each child. However, most boys and many girls remain significantly affected throughout their lives. The cost to society for treatment, special education, and lost income is staggering. The need for research aimed at treatment is urgent.

FRAXA-funded research has achieved significant breakthroughs in understanding Fragile X. We now know that the FMR protein's normal role is to help shape the connections between neurons (brain cells) that underlie learning and memory, and we are beginning to understand how the lack of the protein causes Fragile X syndrome. Because absence of the FMR protein delays the development of neurons, rather than damaging or destroying them, it is likely that treatments now being investigated will benefit all individuals with Fragile X, regardless of age.

Look here to learn about current clinical trials of new treatments which are accepting participants.

For background about our work aimed at treatment, click on Research Strategy or click here for more links about Fragile X.