First genetic test for Fragile X Syndrome

Author(s): 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.”

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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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