This talk was delivered as part of an Ampath Webinar on Fragile X Syndrome Awareness. Fragile X syndrome is one of a number of clinical disorders associated with mutations in the FMR1 gene. Fragile X syndrome is the most common single-gene cause of intellectual disability worldwide. As many as 1 in 151 women and 1 in 468 men carry a premutation in this gene and carriers are at increased risk of Fragile X-associated tremor ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) and neurodevelopemental delay in children.