Solution reagent kit Adellgene® Fragile X

diagnosticclinical

Kit for the determination of healthy and premutation 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. Affected individuals show a striking phenotype consisting on large ears and a prominent jaw. Depending on the number of repetitions of this triplet, three categories can be established: Up to 45 or 55 repeats: individuals with healthy alleles. From 45 or 55 to 200 repeats: individuals with premutation alleles. Over 200 repeats: individuals with mutant alleles. INTENDED USE Adellgene® Fragile X Screening is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories, which quantitatively determines the number of CGG triplet repeats (cytosine-guanine-guanine) in the 5’ untranslated region of the gene for fragile X mental retardation (“Fragile X mental retardation-1”: FMR1). It aims to aid diagnosis of the clinical disease associated with Fragile X syndrome, for example, mental retardation, primary ovarian failure, and tremors / ataxia. This kit can be used for the determination of the number of repeats present in healthy individuals (up to 45/55 CGG repeats) and premutated individuals (from 45/55 to 200 CGG triplet repeats). Female samples reporting only one peak in the results’ electropherogram and male samples with no peak must be analyzed using other appropriate technique, for example,