Genetic Testing for FMR1 Mutations (Including Fragile X Syndrome)

Patient Selection Criteria Coverage eligibility will be considered for fragile X mental retardation 1 (FMR1) mutations the following patient populations:  Individuals of either sex with intellectual disability, developmental delay, or autism spectrum disorder (see Policy Guidelines ◊ ).  Prenatal testing of fetuses of known carrier mothers (see Policy Guidelines ◊ ).  Affected individuals or relatives of affected individuals who have had a positive cytogenetic fragile X test result (see Policy Guidelines ◊◊ ).  Women with primary ovarian failure under the age of 40 in whom fragile X associated ovarian failure is suspected.  Individuals with neurologic symptoms consistent with fragile X associated tremor/ataxia syndrome.