Whole Exome Sequencing (WES)

Test Information

Title
Whole Exome Sequencing (WES)
Lab
Category
Genomes
Test Name (CMS Title)
Whole Exome Sequencing (WES)
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 14, 2025

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