Fragile X Carrier Testing

The Fragile X (FMR1) Genetic Test is a specialized blood test used to determine Fragile X status, including whether an individual is affected by Fragile X Syndrome (FXS) or is a carrier of the genetic mutation. Fragile X Syndrome is a hereditary condition that can cause developmental delays, learning disabilities, cognitive impairment, and behavioral challenges.
FXS is caused by an expansion of CGG repeats in the FMR1 gene located on the X chromosome. When the number of repeats exceeds a certain threshold, it can disrupt normal gene function. This test identifies expanded alleles in the FMR1 gene and distinguishes between normal, premutation (carrier), and full mutation results.
Fragile X Syndrome is one of the most common inherited causes of intellectual disability, affecting approximately 1 in 4,000 males and 1 in 8,000 females. Because it is an X-linked condition, males are often more severely affected, while females may show milder or variable symptoms depending on genetic expression.
This test is particularly important for families in which a diagnosis of Fragile X has already been identified. Early detection supports informed medical care, early intervention services, and reproductive planning.
What Is Included In This Test?
This test includes:
Analysis of the FMR1 gene for CGG repeat expansionDetermination of normal, premutation (carrier), or full mutation statusClear genetic results for clinical interpretation
Why Does This Test Matter?
Fragile X testing provides critical genetic insight for individuals and families at risk. Identifying a full mutation confirms a diagnosis of Fragile X Syndrome, while detecting a premutation identifies carriers who may not show symptoms but can pass the mutation to future generations.
Carrier detection is especially important for family planning. Women who carry the premutation are at risk of having children with Fragile X Syndrome and may also be at increased risk for Fragile X–associated primary ovarian insufficiency (FXPOI).
Genetic testing also supports early intervention. When Fragile X is identified early, children may benefit from targeted educational planning, developmental therapies, and medical monitoring.
Understanding Fragile X status empowers individuals and families with clarity, allowing for informed reproductive decisions and proactive healthcare management.
Who Should Consider This Test?
You may consider this test if you:
Have a family history of Fragile X SyndromeHave a relative identified as a Fragile X carrierHave a child with developmental delays or intellectual disabilityAre seeking reproductive counselingHave unexplained learning disabilities in the familyAre a woman with primary ovarian insufficiencyHave a personal or family history of autism spectrum featuresAre planning a pregnancy with known Fragile X riskHave undiagnosed intellectual disabilityWant genetic clarity due to family history
Convenient, No-Appointment Testing
To complete your test:
Order online through our website
Use the lab locator to find a nearby testing location
Walk in; no appointment required
Access your results securely in your HealthLabs.com account within one to three business days
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