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Fragile X syndrome (FXS), or Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder. Testing for the fragile X mutation is based primarily on measuring the length of the FMR1 gene region containing the CGG repeat stretch and then calculating the CGG repeat number.