In Whole Exome Sequencing test, all ~20,000 coding genes will be captured, sequenced by NGS, and analyzed with a specific focus on all disease genes or genes that appear to be relevant to the patient’s clinical presentation. This is a very complex test which requires and uses patient clinical information and family history during the analysis process. Given the large number of genes and subsequent variants to be identified, it is always recommended to include parental samples (trio exome) in order to apply certain inheritance models and zoom into the more clinically relevant variants. Obtaining samples from additional family members (affected or unaffected) can be helpful in certain scenarios.
In general, this test should be considered for:
Although the ordering process for all genetic testing should include genetic counselling, whole exome sequencing specifically required dedicated session(s) with highly skilled genetic counsellors before and after the testing is performed.