Genetic Test Details
Whole Genome Sequencing (WGS)
Test Information
- Titre
- Whole Genome Sequencing (WGS)
- Catégorie
- Genome-wide
- Sub Category
- Whole Genome Sequencing (WGS)
- 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
Dernière Mise à Jour: 18 juin 2025