Adellgene Friedreich’s Ataxia

Friedreich’s Ataxia (FRDA) is the most common hereditary ataxia, with an estimated prevalence of 1 in 50.000 and a deduced carrier frequency of 1 in 120 in Europe populations. FRDA is an autosomal recessive degenerative disease characterized by a progressive degeneration of nervous tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs.

 Adellgene Friedreich’s Ataxia is a kit designed for detecting the number of repetitions of GAA in the first intron of the gene encoding frataxin (FXN) gene located in chromosome 9 resulting in Friedreich’s Ataxia disease. It aims to aid clinical diagnosis associated with clinical findings in Friedreich’s ataxia that span from mild to severe symptoms.

Adellgene Friedreich’s Ataxia allows the determination of healthy individuals who have 5 - 30 GAA repeats, patients with mild phenotype (30-49 repeats), and severe (50-1300).

The technology is based on the polymerase chain reaction (PCR) of genomic DNA extracted and purified from peripheral blood followed by fluorescence analysis of the size of the PCR fragments obtained by genetic analyzer and conversion of that size in the number of GAA repeats.