Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. The study in The Journal of Molecular Diagnostics, published by Elsevier, addresses the urgent need for a screening tool to identify carriers of FXS in a more comprehensive, faster, efficient, and cost-effective way compared to current methods, for better informed genetic counseling.