Use

Fragile X syndrome (FXS) is an X-linked disorder primarily affecting individuals due to an expansion of the CGG trinucleotide repeat in the FMR1 gene on the X chromosome. This test is useful for confirming diagnoses of FXS, fragile X tremor/ataxia syndrome, and premature ovarian insufficiency caused by FMR1 expansions. It is essential for determining carrier status in individuals with a family history of FXS or X-linked intellectual disability and is also significant for prenatal diagnosis when an FMR1 expansion is documented in the family. Expansion of CGG repeats causes various related disorders, with the test facilitating accurate diagnosis and carrier identification.