Solution reagent kit Adellgene® SCAs

diagnosticclinicalgenetic

Kit for the determination of the number of triplets in the genes ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), PPP2R2B (SCA12), TBP (SCA17) and ATN1 (DRPLA), by fragment analysis. Information about the product Spinocerebellar ataxias (SCAs) are a heterogeneous group of hereditary neurodegenerative disorders that mainly affect the cerebellum, leading to progressive loss of coordination and balance. These diseases are autosomal dominant and are characterized by a wide clinical and genetic variability. At least twelve types of SCAs are caused by expansions of repetitions, among which six result from mutations caused by the expansion of the CAG trinucleotide which encodes polyglutamine stretches in proteins associated with these diseases: SCA1, SCA2, SCA3/Machado-Joseph disease, SCA6, SCA7, and SCA17. SCA12 is also caused by the expansion of the CAG trinucleotide, although the mutation is found in the 5′ UTR region of the gene. Additionally, another disorder related to a translated repetition of the CAG trinucleotide, dentatorubral-pallidoluysian atrophy (DRPLA), is classified as an SCA due to its clinical characteristics. INTENDED USED Adellgene® SCAs is a semi-automated in vitro diagnostic kit for use in clinical laboratories for the quantitative determination of the number of triplet repeats in the genes ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), PPP2R2B (SCA12), TBP (SCA17) and ATN1 (DRPLA) genes, as an aid in the clinical diagnosis of autosomal dominant spinocerebellar ataxias.