| 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
|
