Genetic testing for Fragile X is widely available and accurate

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.

Fragile X clinics serving children and adults with Fragile X Syndrome


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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?

Chart showing the risk depending on how many repeats a mother has

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.

Find a Genetic Counselor

Data and Statistics on Fragile X — CDC

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

 

Next: About Treatment

Look here to learn about treatment, including current options and clinical trials of new treatments which are accepting participants.