New Test to Detect Common Genetic Disorder

FDA approves new test to help diagnose Fragile X Syndrome

(RxWiki News) The US Food and Drug Administration (FDA) has approved the marketing of the first genetic test to help diagnose Fragile X Syndrome (FXS).

This test, found under the name AmplideX Fragile X Dx and Carrier Screen Kit, uses blood samples to detect FXS.

FXS is associated with developmental delays, learning and intellectual disabilities, social and behavioral issues and autism spectrum disorder. According to the FDA, FXS is considered the most common known cause of hereditary developmental delay and intellectual disability.

This test, used in combination with the evaluation of family history and clinical signs and symptoms, can help detect FXS, the FDA said.

This syndrome is caused by a change in a gene called FMR1. The newly approved test can also be used to test adults who may carry genetic alterations in the FMR1 gene.

“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,” said Dr. Wendy Rubinstein, director of personalized medicine in the FDA's Office of In Vitro Diagnostics and Radiological Health, in a press release.

This new approval is significant because early diagnosis means early intervention, which is key, Dr. Rubinstein noted.

Around 1 in 4,000 males and 1 in 8,000 females in the US have FXS, according to the Centers for Disease Control and Prevention.

The AmplideX Fragile X Dx and Carrier Screen Kit can also be used to help diagnose fragile X-associated disorders, such as fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

However, this new approval is not to be used in the following cases:

  • For fetal diagnostic testing
  • In screening of eggs obtained for in-vitro fertilization prior to implantation
  • In standalone diagnoses of FXS

This approval was granted to Asuragen Inc.

Speak with your health care provider if you have any questions.