Genetic Testing for Fragile X

Genetic testing for Fragile X should be considered in, but not limited to, the following indications:

1. Children (males and females) with developmental, speech, language or motor delay. Children with a diagnosis of learning disabilities of unknown etiology, autism, autistic spectrum disorder, pervasive developmental disorder (PDD) or mental retardation. Adults with mental retardation or autism of unknown cause.

2. Individuals with a family history of Fragile X to determine if they may be carriers and at risk of transmitting it to future generations.

3. Individuals with a family history of mental retardation or autism of unknown cause.

4. Women who are known carriers and pregnant can meet with a genetic counselor to discuss prenatal testing to determine if the fetus carries the gene mutation.

5. Individuals over 50 years old with tremors, balance disorders, or Parkinsonian-like findings without a diagnosis can be tested for a condition called FXTAS (fragile X-associated tremor ataxia syndrome). FXTAS is caused by changes in the same gene that causes fragile X syndrome and has been primarily described in individuals over 50 with a premutation in the fragile X gene.

6. Women with infertility, premature ovarian failure (POI) or unexplained premature/early menopause (menopause prior to 40 years old) as Fragile X carriers can have these symptoms.

See also:
Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors
Guidelines for testing for Fragile X
Prenatal testing  
Impact of testing on families   
Prevalence of fragile X syndrome