NGS sequencing test kit NGS on!®

for genetic disordersgeneticbuccal Swabs

Whole exome sequencing kit using NGS technology. Information about the product INFORMATION ABOUT THE PRODUCT Next-Generation Sequencing (NGS) has revolutionized the field of genetic analysis by enabling the simultaneous examination of increasingly large regions of the genome in a fast and efficient manner. Among the various applications of NGS, Whole Exome Sequencing (WES) focuses on the study of the coding regions of the genome, where the majority of genetic variants associated with hereditary diseases are found (approximately 80%). The human exome represents about 1–2% of the genome but contains most of the known variants linked to genetic disorders. Whole exome sequencing is an effective strategy for identifying disease-causing variants in Mendelian disorders, neurological conditions, hereditary cancer, and other complex genetic diseases. The use of WES in clinical diagnostics enables improved genetic characterization of patients with non-specific phenotypes and supports medical decision-making. It also provides a powerful tool for biomedical research and personalized medicine. INTENDED USE NGS on!® Whole Exome is a semi-automated kit for next-generation sequencing (NGS) of the exonic regions of the human genome (whole exome), covering a 37.64 Mb region, using genomic DNA extracted from whole blood and buccal swabs. The kit includes reagents for the preparation of DNA libraries enriched in exonic regions, intended for use on Illumina NGS sequencing platforms. The purpose of the product is the identification of genetic variants in the exome to support the diagnosis of hereditary diseases, detect variants related to disease predisposition,