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Genetic Testing for FMR1 Variants (including Fragile X Syndrome)
Effective date
Not stated in the notice
Identified
Jun 20, 2026
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, 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.
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What to do
Action · 2 steps
01Billing team: Bill FMR1 variant testing only for the listed populations: 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; individuals with neurologic symptoms consistent with fragile X-associated tremor or ataxia syndrome; and the reproductive counseling populations in the policy, which include family history of fragile X syndrome or undiagnosed intellectual disability, carrier status information after a positive cytogenetic fragile X test, and prenatal testing of fetuses of known carrier mothers.
02Testing for all other uses is investigational and is not medically necessary under this policy.
Codes mentioned
81171811728124381244F84.0F71F72F73Q99.2Z31.430Z81.0Z31.440Z13.71
Original notice
Genetic Testing for FMR1 Variants (including Fragile X Syndrome)
bcbsms.com · Always check the source before changing claims.
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