WES for the diagnosis of Genetic Diseases
The MyWES® test is based on WES - Whole Exome Sequencing analysis and performs a complete screening of over 20,000 genes for the detection and diagnosis of genetic diseases. Most of the genetic variants responsible for a genetic disease are found in the coding exons of the human genome. Although they make up only 1% – 2% of the genome, a total of 85% of all known mutations responsible for genetic diseases are estimated to be found in these regions. Therefore, it often makes sense to perform a targeted WES analysis. MyWES® gene testing can be done during pregnancy, childhood or adulthood. It is usually performed for one or more of the following reasons: When is the iGenome – (Whole Exome Sequencing) test recommended for diagnosis?