Urea Cycle Diseases: All
| Test Information | |
|---|---|
| Test Name | Urea Cycle Diseases: All |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Urea Cycle Disorders |
| Gene/Platform/Region List | ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, DBT, DLD, GLUD1, GLUL, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |