Solution reagent kit Adellgene® Fragile X

diagnosticclinicalfor genes

Kit for the determination of healthy, intermediate, premutation and mutant alleles in the FMR1 gene by fluorescent fragment analysis Information about the product Fragile X Syndrome (FXS, OMIM #300624) is an X-linked disease that is primarily based on the genomic expansion of a triplet of nucleotides (CGG), and aberrant methylation of the promoter region. FXS has a prevalence of 1 in 4000 males and 1 in 8000 females, and is associated with mental retardation, autism, and mental and emotional changes. Affected individuals show a striking phenotype consisting on large ears and a prominent jaw. Depending on the number of repetitions of this triplet, four categories can be established: Up to 44 repeats: individuals with healthy alleles. From 45 to 54 repeats: individuals with intermediate alleles. From 55 to 200 repeats: individuals with premutation alleles. Over 200 repeats: individuals with mutant alleles. INTENDED USE Adellgene® Fragile X is a semi-automated in vitro diagnostic kit for use in clinical laboratories allowing quantitative determination of the number of CGG triplet repeats in the 5’ untranslated region of gene for fragile X mental retardation (“Fragile X mental retardation-1”: FMR1; or FXS), as an aid in the clinical diagnosis of disease associated with Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). The kit allows the quantification of the size of healthy, intermediate, premutant 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.