Novel assay promises more efficient screening for carriers of fragile X syndrome

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, published in The Journal of Molecular Diagnostics, 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.

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