Fragile X Syndrome is the most common form of inherited intellectual disability. Approximately 1/1250 males and 1/2500 females are affected by the condition. Some population studies have shown the carrier frequency to be as high as 1/250 individuals. The American College of Medical Genetics policy statement on Fragile X testing recommends consideration of testing for males or females with intellectual disability, developmental delay or autism, those with a family history of Fragile X syndrome or unexplained intellectual disability. Additionally, prenatal testing should be offered to known carrier females. Trinucleotide repeat analysis is the standard for Fragile X diagnosis. Patients with the above characteristics who had a previously normal cytogenetic Fragile X results should also be considered for trinucleotide repeat analysis.