Asuragen’s genetic test has to be used along with the assessment of a patient's family history and clinical signs and symptoms of FXS


The US FDA’s Center for Devices and Radiological Health (Credit: The U.S. Food and Drug Administration)

Asuragen has secured approval from the US Food and Drug Administration (FDA) for its genetic test to diagnose Fragile X Syndrome (FXS).

Individuals with a full mutation have FXS, a genetic condition that is responsible for developmental delays, learning disabilities, social and behavioural issues, intellectual disabilities and autism spectrum disorder.

Designed as an aid in diagnosing FXS, the AmplideX Fragile X Dx and Carrier Screen Kit need to be used along with the assessment of a patient’s family history and clinical signs and symptoms of FXS.

The test can also be used for adults who carry genetic alterations in the gene associated with FXS known as the FMR1 gene.

Almost one in 4,000 males and one in 8,000 females in the US have FXS, as per the Centers for Disease Control and Prevention.

Blood specimens from patients will be used by the new genetic test to measure the number of repeats of the CGG segment in the FMR1 gene.

Asuragen’s test will help know whether a patient has a number of CGG repeats, which is considered either normal, intermediate, premutation or full mutation.

Asuragen’s test will also help diagnose fragile X-associated disorders and fragile X-associated primary ovarian insufficiency

Asuragen’s test will also assist in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome, a movement and cognitive disorder that generally occurs in adults over age 50.

In addition, the test will help diagnose fragile X-associated primary ovarian insufficiency, a condition that is indicated by reduced function of the ovaries.

The FDA’s Center for Devices and Radiological Health’s office of in vitro diagnostics and radiological health’s personalised medicine director Dr Wendy Rubinstein said: “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.”

In November 2019, Asuragen collaborated with clinical-stage genetic medicines company Wave Life Sciences to develop companion diagnostics for Huntington’s disease (HD).