Urea Cycle Diseases: High Citrulline
| Test Information | |
|---|---|
| Test Name | Urea Cycle Diseases: High Citrulline |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Urea Cycle Disorders |
| Gene/Platform/Region List | ASS1, SLC25A13 |
| 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 II, Citrullinemia type 2 Adult-onset, citrullinemia type 2, CTLN2, Citrin deficiency, Adult-onset citrullinemia type II, Adult-onset citrin deficiency, Adult-onset type II citrullinemia |