Urea Cycle Diseases: High ASA
| Test Information | |
|---|---|
| Test Name | Urea Cycle Diseases: High ASA |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Urea Cycle Disorders |
| Gene/Platform/Region List | ASL |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | Argininosuccinic aciduria, Arginino succinase deficiency, argininosuccinate lyase deficiency, argininosuccinate acid lyase deficiency, ASA, ASL deficiency |