- About Fragile X
- About FRAXA
- Toward a Cure
- Get Involved
- Ways to Give
DNA testing for Fragile X, developed in 1992, is accurate and can detect 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 results.
Because 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 may cost several hundred dollars but is usually covered by health insurance. Prenatal testing with chorionic villus sampling or amniocentesis allows diagnosis of FMR1 mutation while the fetus is in utero and appears to be reliable.
For more information about testing, talk to your doctor or genetic counselor. You can also browse this map of U.S. Fragile X Clinics
When a woman is a carrier of Fragile X, her chances of passing the mutation on to her children depend on the length of her own premutation. This article was written by experts in Fragile X syndrome and prenatal diagnosis.
Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
Am J Hum Genet. Feb 2003; by Sarah L. Nolin, et. al.