Exome Sequencing

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:

  • Complex presentations where multiple, non-overlapping features are involved
  • Genetically heterogeneous disorders for which no genetic test is available, and/or
  • Disorders with highly suspected genetic aetiology but exhaustive targeted genetic testing did not reveal an answer.

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.