FRIEDREICH ATAXIA MUTATION ANALYSIS (O.S)

Overview

Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function. This test detects expansion of an intronic GAA triplet repeat in the FXN gene which leads to reduced expression of the mitochondrial protein frataxin.