Genetic Test Details
Whole Exome Sequencing (WES)
Test Information
- Title
- Whole Exome Sequencing (WES)
- Category
- Genome-wide
- Sub Category
- Whole Exome Sequencing (WES)
- Test type
- Genome-wide
- Samples Accepted
- DNA , Blood
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Methodology Notes
- At CHEO analysis and interpretation only
- Disease/Condition
- Moderate to severe developmental or functional impairment, Multisystem involvement Progressive clinical course, Differential diagnosis includes ≥ 2 well defined conditions requiring evaluation by multiple targeted gene panels, Suspected severe genetic syndrome NYD for which multiple family members are also affected or where parents are consanguineous
Last Updated: June 23, 2025