Genetic Test Details

Urea Cycle Diseases: High Citrulline

Test Information

Title
Urea Cycle Diseases: High Citrulline
Category
Metabolic
Sub Category
Urea Cycle Disorders
Gene/Platform/Region List
ASS1, SLC25A13
Test type
Gene Panel
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
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

Last Updated: June 23, 2025