Solution reagent kit Adellgene®

diagnosticclinicalfor genes

Kit for the determination of the CAG triplet repeats number of the HTT gene by fluorescent fragment analysis Information about the product Huntington Disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The disease is inherited in an autosomal dominant fashion and is caused by the expansion of CAG trinucleotide repeats located in a gene termed Huntingtin (HTT, originally known as IT-15). This trinucleotide codes for the aminoacid glutamine. A normal allele for gene HTT contains 6-26 CAG repeats. Individuals with 27-35 repeats fall into the intermediate range, and their children are at risk of HD. From 36 to 39 repeats are considered alleles with reduced (or incomplete) penetrance, and individuals may or may not develop HD. Alleles with more than 40 repeats will lead to the development of the disease and are considered fully penetrant alleles. INTENDED USE Adellgene® Huntington Disease is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories, for the quantitative determination of the number of repetitions of the CAG (cytosine-adenine-guanine) triplet, located on exon 1 of the IT15 gene (HTT), which can result in the formation of Huntington’s disease (HD), also called Huntington’s Chorea. It aims to aid the clinical diagnosis of Huntington’s chorea. The kit allows the quantification of the size of normal, intermediate and pathogenic alleles with a size equal to or less than 200 repeats. The expansions of more than 200 repeats can be detected, but not quantified.