25 Jul
Fragile X syndrome is an X-linked disorder with variable expression in males and females. It is caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene, located on the X chromosome. This molecular assay aids in determination of carrier status for individuals with a family history of fragile X syndrome or X-linked mental retardation, and confirmation of diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian failure caused by expansions in the FMR1 gene.