Urea Cycle Diseases: Low citrulline
| Test Information | |
|---|---|
| Test Name | Urea Cycle Diseases: Low citrulline |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Urea Cycle Disorders |
| Gene/Platform/Region List | CPS1, NAGS, OTC |
| 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 |
| Diseases/Conditions | Citrullinemia type I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1 |