With a new genetic test called Whole Exome Sequence Analysis (Whole Exome Sequencing-WES), changes in DNA can be determined by focusing on the functional regions of the genome. The exome is the whole DNA sequence of genes that provide the production of proteins necessary for your body's function. Many of the disease-causing mutations that science has determined so far have been detected in the exon regions. While most of the genetic tests performed to date have only screened one gene or several genes related to the disease, WES tests simultaneously screen thousands of genes.

This feature makes WES one of the most effective methods to reveal the causes of complex genetic problems. WES is ideal for finding new mutations and identifying atypical findings of the disease.

With Whole Exome Sequence Analysis, all exons in the human genome can be sequenced. Especially exome sequence analysis is very important in establishing a definitive diagnosis of the disease in patients who have not been clinically diagnosed. In families carrying genetic diseases, it is important to establish a definitive diagnosis of the disease with mutation detection in order to maintain a healthy family genealogy. In addition, the presence of the gene responsible for the disease enables families with affected children to determine whether the baby is sick in the womb during their new pregnancy, and to prevent the disease with the genetic examination during the IVF stage.

Less than 2% of the human genome corresponds to protein-coding genes; this represents ~ 200,000 exons of ~ 50,000 pairs of approximately 50 mb. The function of the rest of the genomes is largely unknown. Regions with coding potential are generally referred to as "exomes". The vast majority of the disease-causing mutations that have been identified by heritability to humans are included in this small coding section.In Mendelian diseases, approximately 85% of this disease factor mutations are within these coded exons.