Genetic Test Details
Urea Cycle Diseases: Low citrulline
Test Information
- Title
-
Urea Cycle Diseases: Low citrulline
- Category
- 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
- Diagnosis , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Citrullinemia type I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1
Last Updated: June 23, 2025