Individual Whole Exome Sequencing

Next-Generation Sequencing (NGS) is an advanced genome sequencing technique that targets the sequence of all protein-coding regions (exomes) in an individual's DNA. The analysis covers approximately 1.5% of the human genome, the portion containing more than 85% of known pathogenic mutations. The results are compared with global genetic databases to identify pathogenic or likely pathogenic variants in genes associated with human diseases. It is used to investigate the causes of genetic diseases when familial inheritance patterns are unclear or when the condition is individual and complex.