If you are reading this, chances are fragile X syndrome has affected your life in some way, such as a family member being diagnosed or you found out that you are a carrier of the condition. This educational website is dedicated to informing people, just like you, on the latest information about fragile X syndrome. We understand the anxiety that having a genetic condition in your family may cause and we are here to provide step-by-step information to assist families faced with fragile X syndrome or fragile X-related conditions.
Although this website is sponsored by Asuragen, we aim to provide awareness along with accurate and concrete information on how fragile X syndrome can manifest in individuals who have the diagnosis and how conditions such as FXTAS and FXPOI can occur in carriers.
The new technologies to investigate the FMR1 (fragile X) gene promise improved screening and diagnostics, with the benefit of greater accuracy, superior analytical sensitivity, improved quantification capabilities, faster throughput, and higher resolution genotyping.
As a result, these innovations greatly enhance FMR1 molecular diagnostic tests to enable routine carrier screening, improve our understanding of the risk of repeat expansion from parent to child, and provide more flexible and insightful analyses of research and clinical samples with implications for new generations of fragile X therapies and treatments.
This information is for educational purposes only and is not intended to replace the advice of your doctor or health care provider. We encourage you to discuss with your doctor or genetic counselor any questions or concerns you may have.