How do healthcare providers diagnose Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)?

Women who are concerned that they might have FXPOI can get their levels of follicle-stimulating hormone (FSH) tested. FSH levels are higher in women whose ovaries are not working properly, compared with other women of the same age whose ovaries are functioning normally.1

Healthcare providers may suggest genetic testing for a person who has a family history of Fragile X syndrome, infertility, or early menopause. Testing can help explain why a person is experiencing certain symptoms, such as irregular menstrual cycles, and can determine if a person is more likely to have a child with a Fragile X-associated disorder.

Prenatal Testing (During Pregnancy)

A pregnant woman who has the FMR1 premutation or full mutation may have a prenatal test to check the developing fetus for the mutated gene. This important information helps families and providers to prepare for Fragile X syndrome and to intervene as early as possible.

Possible types of prenatal tests include:

  • Amniocentesis. A healthcare provider takes a sample of amniotic (pronounced am-nee-OT-ik) fluid, which is then tested for the FMR1 mutation.
  • Chorionic villus sampling. A healthcare provider takes a sample of cells from the placenta, which is then tested for the FMR1 mutation.2

Because prenatal testing involves some risk to the mother and fetus, if you or a family member is considering prenatal testing, discuss all the risks and benefits with your healthcare provider.

According to the National Fragile X Foundation external link, testing can cost between about $300 and $600. Health insurance generally covers the cost if the test is considered medically necessary, either to diagnose a Fragile X-associated condition or to counsel a woman who is pregnant or plans to become pregnant. If you are considering Fragile X testing, check with your insurance company to find out if the testing is covered.1


  1. National Fragile X Foundation. (n.d.). Testing. Retrieved May 31, 2012, from external link
  2. Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: Diagnostic and carrier testing. Genetics in Medicine, 7, 584-587.
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