This report evaluates the clinical utility of fragile X syndrome (FXS) genetic testing. The evidence is considered for use of genetic testing to diagnose individuals with suspected disease; carrier testing for women with and without a family history of intellectual disability (ID), developmental delay, autism spectrum disorder (ASD), and FXS; prenatal testing for at-risk pregnancies; and newborn screening. The evidence for use of FXS genetic testing for diagnosis is considered, as well as how the diagnosis impacts testing of family members and the identification of incidental findings as part of the genetic work-up. Carrier screening for FXS is evaluated in different populations, including women with a family history suggestive of FXS, as well as population-based screening. The impact on carrier identification on reproductive decision making is also considered, as well as the evidence for testing at-risk pregnancies. The evidence for newborn screening is also summarized.
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