The Whole Exome represents the totality of human genes. It’s consistent with 2% of the entire human DNA, yet it contains 85% of all pathogenic mutations.
Doing Whole Exome Sequencing (WES) means sequencing the entire coding regions of all the 20,000 human genes. This is the most expansive approach for genetic disorders, from rare diseases to genetic susceptibility to cancer. Whole Exome Sequencing reaches unprecedented diagnostic success rates and shortens the solution of the diagnostic odyssey from years to just a few weeks, thanks to its high yield.
Whole Exome Sequencing answers the diagnostic question, as it finds the mutation causing the patient’s disease. Besides this, it also gives important insights into all human genes.
Whole Exome Sequencing is also indicated for individuals with no clinical remarks or family history, willing to know if they have harmful genetic mutations that may develop into overt disease later in time or be transmitted to the offspring (see PROACTIVE).Read More