WES (Singleton, Duo, Trio, Quad)
| Test Information | |
|---|---|
| Test Name | WES (Singleton, Duo, Trio, Quad) |
| Lab (Location) | The Hospital for Sick Children |
| Category | Genome-wide |
| Subcategory | Whole Exome Sequencing (WES) |
| Gene/Platform/Region List | Whole Exome |
| Test type | Genome-wide |
| Samples Accepted | Blood, DNA, Tissue |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | Real Time PCR, Sequencing |
| Methodology Notes | qPCR/Affymetrix array (CytoScan) for CNV confirmation, Sanger sequencing for variant confirmation |
| Diseases/Conditions | Rare genetic disorder |