Clinical exome sequencing is a molecular genetic test used in the diagnosis of genetic diseases in individuals. The “exome” refers to the protein-coding regions of the genome, which make up about 1% of the human genome. This test aims to detect genetic mutations by sequencing only the exomes from the patient’s genetic material. Clinical exome sequencing is particularly effective in diagnosing rare diseases or complex genetic conditions. The data obtained from the test provides important information for genetic counseling and determining treatment options.