We are pleased to announce the addition of FMR1 premutation repeat expansion analysis to our Ataxia Repeat Expansion Panel and our Premature Ovarian Failure Panel, making these tests more comprehensive!
Carriers of a premutation in FMR1 (55-200 repeats) are at risk for developing Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Female premutation carriers are also at risk of developing premature ovarian failure (POF). FXTAS is characterized by late-onset cerebellar ataxia and intention tremors. Patients may also experience cognitive decline, memory deficits, and decline of executive functioning. While FXTAS is more prevalent in male premutation carriers, it may also affect female premutation carriers. Premature ovarian failure (POF) is characterized by cessation of menses of before the age of 40. It is estimated that 3-12% of women with premature ovarian failure carry a premutation in FMR1 (Sherman, 2002).
More information about each panel can be found on the individual test pages on our website: