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 , 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