Genetic testing for fragile X mental retardation 1 gene (FMR1) variants may be considered medically necessary for the following populations:
Individuals with characteristics of fragile X syndrome (FXS) or a fragile X-associated disorder, including:
Individuals with intellectual disability, developmental delay, or autism spectrum disorder;
Women with primary ovarian insufficiency under the age of 40 in whom fragile X-associated primary ovarian insufficiency is suspected;
Individuals with neurologic symptoms consistent with fragile X-associated tremor or ataxia syndrome.
Individuals who have a personal or family history of FXS who are seeking reproductive counseling, including:
Individuals who have a family history of FXS or a family history of undiagnosed intellectual disability;
Affected individuals or relatives of affected individuals who have had a positive cytogenetic fragile X test result who are seeking information on carrier status;
Prenatal testing of fetuses of known carrier mothers.
Genetic testing for FMR1 variants is investigational for all other uses.
