Chronic Granulomatous Disease
| Test Information | |
|---|---|
| Test Name | Chronic Granulomatous Disease |
| Lab (Location) | Newborn Screening Ontario |
| Category | Immunity |
| Subcategory | Primary immune deficiencies |
| Gene/Platform/Region List | CYBA, CYBB, CYBC1, G6PD, NCF1, NCF2, NCF4 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Methodology Notes | Exome with option of Long-range PCR and Sanger for NCF1 with abnormal NOBI |
| Diseases/Conditions | Chronic Granulomatous Disease (CGD) |