Solution reagent kit Adellgene® Friedreich’s Ataxia

diagnosticclinicalgenomic DNA

Kit for the determination of the GAA triplet repeats number of the FXN gene by fluorescent fragment analysis Information about the product Friedreich’s ataxia (FRDA) is the most common hereditary ataxia and it´s an autosomal recessive degenerative disease. The most common DNA abnormality associated with FRDA is the expansion of a GAA triplet repeat polymorphism localized in the first intron of the gene encoding frataxin (FXN). Depending on the number of repeats obtained, alleles can be classified into three different ranges: healthy (between 5-33 repeats), Intermediate (34-65 repeats) Full penetrance (66->200 repeats) INTENDED USE Adellgene® Friedreich’s Ataxia is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories which quantitatively determines the number of repetitions of GAA (guanine-adenine-adenine) in the first intron of the gene encoding frataxin (FXN) located in chromosome 9 resulting in Friedreich’s ataxia disease. It aims to aid the clinical diagnosis of Friedreich’s ataxia in individuals presenting compatible symptoms, that might span from mild to severe. The kit allows the quantification of the size of normal, intermediate and expanded alleles with a size equal to or less than 200 repeats. The expansions of more than 200 repeats can be detected, but not quantified. The procedure is based on the amplification by Triplet repeat Primed Polymerase Chain Reaction (TP-PCR) with fluorescent primers of genomic DNA extracted from whole blood and/or buccal swab, subsequent analysis of the amplified products in a capillary sequencer and number of repeats calculation from the corresponding amplified product size.