Genetic Test Details
Urea Cycle Diseases: High Citrulline
Test Information
- Titre
-
Urea Cycle Diseases: High Citrulline
- Catégorie
- Metabolic
- Sub Category
-
Urea Cycle Disorders
- Gene/Platform/Region List
-
ASS1, SLC25A13
- 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 II, Citrullinemia type 2 Adult-onset, citrullinemia type 2, CTLN2, Citrin deficiency, Adult-onset citrullinemia type II, Adult-onset citrin deficiency, Adult-onset type II citrullinemia
Dernière Mise à Jour: 18 juin 2025