Genetic Test Details
Whole Genome Sequencing (WGS)
Test Information
- Title
-
Whole Genome Sequencing (WGS)
- Category
- Genome-wide
- Sub Category
-
Whole Genome Sequencing (WGS)
- Test type
- Genome-wide
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- 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: November 26, 2025