The Comprehensive Guide to Fragile X Syndrome's Impact on Adults

7. Diagnostics

Doctors can confirm a definitive diagnosis of fragile X syndrome through molecular genetic testing of the FMR1 gene. They will most often do this test when a parent or physician notes a combination of factors such as developmental delays and family history. Prenatal testing is also possible. Women carrying the mutated gene as a recessive allele do not have any symptoms, but ovarian failure at a young age is much more common for women carrying the FMR1 gene mutation than in the general population. Obstetrics doctors may recommend young women having trouble conceiving undergo genetic testing as a precaution to see if they are carriers.

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