Urea Cycle Disorders
| Test Information | |
|---|---|
| Test Name | Urea Cycle Disorders |
| Lab (Location) | London Health Sciences Centre |
| Category | Metabolic |
| Subcategory | Urea Cycle Disorders |
| Gene/Platform/Region List | ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, GLUL, NAGS, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | CNV, Sequencing |
| Diseases/Conditions | N-acetylglutamate synthase (NAGS) deficiency, Carbamoylphosphate synthetase I (CPS1) deficiency, Ornithine transcarbamylase (OTC) deficiency, Argininosuccinate synthase 1 (ASS1) deficiency or Citrullinemia type I, Citrin deficiency or Citrullinemia type II, Argininosuccinic lyase (ASL) deficiency, Arginase (ARG) deficiency, Ornithine translocase deficiency |