: These captured regions are read by high-tech machines to determine the genetic code.
: Issues like privacy, data storage, and the psychological impact of genetic results require thorough pre-test counseling .
: Results can reveal "medically actionable" findings—variants that can directly change a patient's medical management or treatment plan. How It Works The process typically follows a standardized workflow: ABOUT EXOME Free Download
: Blood or tissue is collected from the patient (and often their parents for comparison).
: It is widely used to identify genetic causes for developmental delays, intellectual disabilities, and unexplained neurological disorders. : These captured regions are read by high-tech
: By ignoring the 99% of DNA that does not code for proteins, this test is significantly faster and more cost-effective than sequencing the entire genome.
The (specifically "Whole Exome Sequencing" or WES) is a powerful genetic testing method that focuses on the protein-coding regions of your DNA. While these regions—called exons—make up only about 1% of the entire human genome , they are estimated to harbor roughly 85% of all known disease-causing mutations . Key Benefits of Exome Sequencing How It Works The process typically follows a
: Sometimes a change is found, but science doesn't yet know if it's harmful or just a normal variation.