Whole exome sequencing (WES) is a technique used to analyze all the protein-coding regions of a person’s genome, known as the exome. These exonic regions make up about 1-2% of the entire genome but contain the majority of known disease-causing mutations. WES helps identify genetic mutations that may lead to various inherited disorders or conditions. It involves sequencing the exons, followed by the identification of genetic variants and comparison with reference databases. WES is often used when other genetic tests fail to provide a diagnosis for unexplained symptoms. It provides a more comprehensive understanding of genetic contributions to disease than targeted sequencing. This test is valuable for rare genetic disorders, offering insights for diagnosis, treatment, and genetic counseling.