
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 |