Taking the CompleXity Out of Fragile X Testing

Learn More About Fragile X Syndrome and Premutation-associated Disorders

Discover how mutations in the fragile X gene impact a broad range of clinical disorders and treatment decisions.

Did you know…

  • A full mutation of the fragile X gene causes fragile X syndrome and is associated with autism spectrum disorder, language and speech delay, seizures, and intellectual disability.
  • Prospective parents with a small mutation (premutation) in the fragile X gene may have a silent mutation and not have any symptoms but still may be at risk of having a child with fragile X syndrome.
  • In older adults, a small mutation (premutation) in the fragile X gene can cause difficulty with balance and walking (ataxia), cognitive decline, tremors and Parkinsonism-like symptoms.
  • In women, a small mutation (premutation) in the fragile X gene can cause infertility, early menopause, and fragile X-associated primary ovarian insufficiency.


Please Choose Your Path Below

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Patients & Family

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Prospective Parents

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Healthcare Providers

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