Genetic Testing for FMR1 Variants (Including Fragile X Syndrome) (2.04.83)
Summary
Genetic testing for FMR1 variants may be considered medically necessary for individuals with characteristics of fragile X syndrome or a fragile X-associated disorder, including individuals with intellectual disability, developmental delay, or autism spectrum disorder, women with primary ovarian insufficiency under age 40 when fragile X-associated primary ovarian insufficiency is suspected, and individuals with neurologic symptoms consistent with fragile X-associated tremor or ataxia syndrome. It may also be considered medically necessary for individuals with a personal or family history of fragile X syndrome who are seeking reproductive counseling, including those with a family history of fragile X syndrome or undiagnosed intellectual disability, affected individuals or relatives with a positive cytogenetic fragile X test seeking carrier status information, and prenatal testing of fetuses of known carrier mothers. Genetic testing for FMR1 variants is investigational for all other uses.
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