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How is fragile X syndrome (FXS) diagnosed?

Fragile X syndrome can be diagnosed with a genetic test by the name polymerase chain reaction, or PCR. It tests for a repeat of the genetic code in the FMR1 gene. This test can be performed on children after birth, or while they are still in the womb. Adults can also undergo genetic testing to see if they are carriers of the gene mutation that causes fragile X syndrome.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.