Genetic Testing for FMR1 Variants (including Fragile X Syndrome)
Genetic testing for FMR1 variants may be considered medically necessary for individuals with characteristics of fragile X syndrome or a fragile X-associated disorder, and for individuals with a personal or family history of fragile X syndrome who are seeking reproductive counseling. Genetic testing for FMR1 variants is investigational for all other uses. Cytogenetic testing is no longer considered an acceptable diagnostic method according to American College of Medical Genetics and Genomics standards.