Direct DNA testing for fragile X was developed in 1992. It is simple and accurate, and it can detect both carriers and affected individuals.
Fragile X testing should be considered for anyone with signs of autism or unexplained developmental delay
Symptoms of fragile X can be subtle, especially in young children. And fragile X is one of the most common of the rare diseases (1 in 4000 males and 1 in 6000 females). There are many people who have fragile X but are not yet diagnosed.
Any doctor can order the fragile X test
Once the blood sample is taken, it is sent to a lab that offers the test. Most major U.S. medical centers offer testing for fragile X. It can take several weeks to get results. The cost is usually covered by health insurance. Prenatal testing can be done by CVS (chorionic villus sampling) or amniocentesis. Routine CVS or amniocentesis does not usually include fragile X testing, so please talk to your doctor or genetic counselor.
If your doctor is unfamiliar with the fragile X test, you can consult with a medical geneticist. Geneticists special in genetic diagnosis.
Fragile X clinics serving children and adults with fragile X syndrome
Fragile X Clinical Trials
For all Fragile X medication trials visit http://www.clinicaltrials.gov/ct2/results?term=fragile+x.
To learn how trials work, visit http://clinicaltrials.gov/ct2/info/understand
What are the chances of passing fragile X from mother to child?
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.
For a more technical explanation of how this occurs, please read
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.
Diagnosis and Management of Fragile X Syndrome — American Family Physician
American College of Medical Genetics Recommendations — Genetic Testing ACT Sheet for medical professionals
Molecular diagnosis of Fragile X syndrome — Expert Rev Mol Diagn.
genetests.org — International list of tests and labs
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Look here to learn about treatment, including current options and clinical trials of new treatments which are accepting participants.