Fragile X Repeat Expansion Testing Now Available
September 18, 2017
At MNG Laboratories, we continuously seek ways to improve our diagnostic abilities and to stay at the forefront of the genetics field. MNG is proud to announce the availability of Fragile X repeat expansion testing within our portfolio of recognized diagnostic tests. We’d also like to recognize this launch in light of July being National Fragile X Awareness Month. You can read more about this at the National Fragile X Foundation’s website. Fragile X is the most common cause of inherited intellectual disability and can be seen in both males and females with a range of symptomatic characteristics. The main cause of Fragile X Syndrome is the repeat expansion region of CGGs in the FMR1 gene resulting in a lack of protein (FMRP) essential for normal cognitive development. The number of repeats correlates to the severity of symptoms, especially in males, and is often linked with Autism Spectrum Disorders. To complement our Fragile X Repeat Expansion testing, MNG includes methylation analysis where clinically relevant. When >200 repeats are discovered, this triggers methylation of FMR1 and stops any synthesis of the fragile X protein, resulting in a complete lack of gene function. While this is a positive feature in females enabling them to use their second healthy copy of FMR1, methylation results in a fully expressed mutation in males and a higher severity of symptoms. Since Fragile X repeat expansions cannot be detected by NGS sequencing alone, we have added Fragile X Repeat Expansion + Methylation Analysis to our Comprehensive Intellectual Disability and X-Linked Intellectual Disability Panels. Our Intellectual Disability portfolio is now better than ever: We strive to give you the best answers possible when you trust us with your patients’ samples. MNG constantly endeavors to provide you with actionable results. Utilizing our proprietary Genome MaNaGer™ pipeline and Neurogenetic Answers™ reporting process, we aim to reduce the distraction of unrelated variants of uncertain significance.