neurodevelopmental disorders

The Fragile X (FMR1) Mutation Screen (L) is a genetic test designed to detect mutations in the FMR1 gene, which are associated with Fragile X syndrome, a leading cause of inherited intellectual disability and autism. This screening identifies CGG repeat expansions, distinguishing between normal, premutation, and full mutation alleles. Key benefits include early detection for informed reproductive decisions, risk assessment for carriers, and guidance for personalized medical management. Utilizing advanced molecular techniques, the test ensures high accuracy and reliability. Ideal for individuals with a family history of Fragile X or unexplained developmental delays, this screening provides critical genetic insights for proactive healthcare planning.