Use

The Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test analyzes for trinucleotide (CGG) repeat expansions within the 5′ untranslated region of the FMR1 gene. Pathogenic repeat expansions in FMR1 are the most common cause of Fragile X Syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency. The test may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, or inform family planning and genetic counseling.