Urea Cycle Diseases: Low citrulline
Urea Cycle Diseases: Low citrulline
Test Information
- Titre
-
Urea Cycle Diseases: Low citrulline
- Catégorie
- Metabolic
- Sub Category
-
Urea Cycle Disorders
- Gene/Platform/Region List
-
CPS1, NAGS, OTC
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Citrullinemia type I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1
Dernière Mise à Jour: 18 juin 2025