Is There a Test for Fragile X?
A DNA test for Fragile X was developed in 1992.
This blood test 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 otherwise unexplained developmental delay or mental retardation.
Most major U.S. medical centers offer the Fragile X test.
It costs several hundred dollars but may be covered by health insurance.
For more information about testing, talk to your doctor or genetic counselor.
April 2005: Standard Reference Material
from the National Institute of Standards and Technology (NIST)
was released to help clinical genetics labs improve the accuracy of Fragile X
diagnostic tests.
Are there any 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 already 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 seems to delay the development of neurons, rather than damage or destroy them,
it appears likely that treatments now being investigated can potentially benefit all individuals
with Fragile X, regardless of age.
For more about our work aimed at treatment, click on Research Strategy.
