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First genetic test for Fragile X Syndrome

By: Lydia L. Kim, Digital Content Editor

The U.S. Food and Drug Administration (FDA) recently approved marketing for the very first genetic test to help diagnose Fragile X Syndrome (FXS).

FXS is a genetic disorder which affects approximately 1 in every 4,000 females and approximately 1 in every 8,000 males. It is caused by an alteration in the FMR1 gene on the X chromosome, and leads to an excess of X chromosome. The genetic makeup of FXS also causes segments of DNA to have a repeated CGG trinucleotide gene.

FXS can lead to developmental delays, learning disabilities, and other social and behavioral issues.

The test can be used to “determine whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation or full mutation.”

Wendy Rubinstein, MD, PhD, director of personalized medicine in the Office of In Vitro Diagnostics and Radiological Health at the FDA’s Center for Devices and Radiological Health describes the test: “This novel diagnostic provides doctors and their patients the first FDA authorized genetic test to aid in diagnosing Fragile X Syndrome, as well as helping parents know their risk of having a child with Fragile X Syndrome…Early diagnosis is key to helping children affected with Fragile X Syndrome through early intervention.”

Learn more about this news here.


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