"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 Wendy Rubinstein, M.D., Ph.D., director of personalized medicine in the Office of In Vitro Diagnostics and Radiological Health at the FDA's Center for Devices and Radiological Health. "Early diagnosis is key to helping children affected with Fragile X Syndrome through early intervention."
According to the Centers for Disease Control and Prevention, approximately 1 in 4,000 males and 1 in 8,000 females in the U.S. have FXS, which is a genetic disorder caused by changes in the FMR1 gene located on the X chromosome. A segment of the DNA in the gene, known as a CGG trinucleotide repeat, is repeated in excess on the X chromosome in individuals with this disorder. While some repetition of the CGG repeat is normal, a high number of repeats may indicate potential health risks. The AmplideX Fragile X Dx and Carrier Screen Kit uses blood specimens from patients to measure the number of repeats of the CGG segment in the FMR1 gene. The test can determine whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation or full mutation.
More on Marylandian
- Florida Governor Issues Stay-at-Home Order All Legal Proceedings Must Go Online
- 230V in the vehicle made easy and powerful with an all-in-one inverter system
- Mahmood Khan Cracks ITUNES Australia Top Ten Charts
- Perdue Farms Achieves High Ranking from Global Business Benchmark on Farm Animal Welfare for Third Consecutive Year
- Morgan State Offers 4-star Freshman Guard Savon Sutton
Individuals with a full mutation typically have FXS, which is associated with developmental delays, learning disabilities, social and behavioral issues, intellectual disabilities and autism spectrum disorder. Women with a premutation have an increased risk of having a child with FXS as compared to women without a premutation. The number of women who have the Fragile X premutation is believed to be approximately 1 in 150 women. Men with a premutation will pass the premutation to their daughters only. Individuals with normal or intermediate levels of repeated CGG segments are currently thought to be asymptomatic for FXS or other fragile X-associated disorders.
In addition to aiding in the diagnosis of FXS and for carrier testing, this test can be used as an aid in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome, which is a movement and cognitive disorder that typically occurs in adults over age 50, and fragile X-associated primary ovarian insufficiency, a condition that is characterized by reduced function of the ovaries. The AmplideX Fragile X Dx and Carrier Screen Kit is not intended for use in fetal diagnostic testing, the screening of eggs obtained for in-vitro fertilization prior to implantation, or stand‐alone diagnoses of FXS.
The FDA reviewed data for this test through the de novo classification process, a regulatory pathway for low- to moderate-risk devices of a new type. During this process, the FDA evaluated data from specimens collected at three clinical sites to assess the accuracy of the test. The data demonstrated that the diagnostic accuracy of the test is greater than 95%.
More on Marylandian
- Eat Locally - Businesses Supporting Local Restaurants
- Slim LED Light Box in 10mm,16mm and 20mm with 5 Years Warranty and Custom Sizes
- Class Claims LLC Announces Practice to Assist Businesses with Government Loans and Grants
- ASI's 2020 Partner & Client Conference Goes Virtual as "iNNOVATIONS LIVE"
- Tampa President & Firm Found Guilty of Fraud - Plaintiff Awarded Nearly $1 Million
Along with this authorization, the FDA is establishing criteria, called special controls, that test developers must meet for tests of this type, including requirements relating to labeling and performance testing. These special controls, when met along with general controls, provide a reasonable assurance of safety and effectiveness for tests of this type. This action also creates a new regulatory classification, which means that subsequent devices of the same type with the same intended use may go through the FDA's 510(k) pathway, whereby devices can obtain clearance by demonstrating substantial equivalence to a predicate device.
The FDA granted marketing authorization of the AmplideX Fragile X Dx and Carrier Screen Kit to Asuragen Inc.
- FDA: Medical Devices FDA: Office of In Vitro Diagnostics and Radiological Health Evaluation of Automatic Class III Designation (De Novo) Summaries
Media Contact: Megan McSeveney, 240-402-4514
Consumer Inquiries: DICE or 888-INFO-FDA
The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
SOURCE U.S. Food and Drug Administration
Filed Under: Business
Latest on Marylandian
- New Book Announcement: Executive Engagement Strategies—How to Have Conversations and Develop Relationships that Build B2B Business
- STG Logistics handles first FEMA charter of medical supplies
- COVID-19 UPDATE: Coronavirus Positive Patients' can use Sargas' Remote Monitoring platform to free up hospital beds and Medical Staff
- Smartglasses Roadmap – the 20's: New report details $34B market. Smartglasses replace smart phones and smart watches by 2030
- Maryland: Guidance for Food Supply Chain During "Stay at Home" Order
- Sweet James Offers Employees Emergency Relief and Help with Medical Bills
- Symplast Announced as Platinum Vendor of the American Med Spa Association; to Present Educational Webinar on Telehealth to all Society Members
- Maestro International Cargo handles sixteen COVID-19 charters in March including three pharma-only charters totaling 200 metric tons
- T. Rowe Price Offers Engaging Activities For Parents And Kids At Home With Its Money Confident Kids Program
- Reduced prices for mental health support during the difficulty and unknowns of Coronavirus
- National Opioid Crisis Expert Dr. John Rosa Talks About Toddlers Exposed To Pharmaceutical Drugs
- HoloBuilder Welcomes Takenaka Corporation to Their Innovators Club
- The Town Kitchen, PBC launches TTK Provisions to Serve Youth-Crafted, Locally Sourced Food and Essentials to Households in SF Bay Area
- Kyndall Francis Their Success is My Success
- The World's First Inflatable Sleeping Bag
- Humanity First USA Medical Supplies Needed
- Perdue Farms Confirms Positive Case of COVID-19 at Perry, Georgia Production Facility
- Former Isley Brother CHRIS JASPER pays tribute to a SAM COOKE classic ..."Nothing Can Change This Love"... Just Released!
- COVID-19: Non-profit Donates Supplies to Dockweiler State Beach Quarantine Zone
- Somatic Spiritual Counseling: New Psychotherapy Practice in Boulder, CO + Online