Genetic Test Details
Whole Exome Sequencing (WES)
Test Information
- Titre
-
Whole Exome Sequencing (WES)
- Catégorie
- Genome-wide
- Sub Category
-
Whole Exome Sequencing (WES)
- Test type
- Genome-wide
- Samples Accepted
- Blood , DNA
- Indications
- Diagnostics , 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
Dernière Mise à Jour: 18 juin 2025