Whole Exome Sequencing (WES)
| Test Information | |
|---|---|
| Test Name | Whole Exome Sequencing (WES) |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Genome-wide |
| Subcategory | Whole Exome Sequencing (WES) |
| Test type | Genome-wide |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Methodology Notes | At CHEO analysis and interpretation only |
| Diseases/Conditions | 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 |
| Notes | Under Genome-wide Sequencing Ontario |