Urea Cycle Diseases: High Citrulline

Test Information

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

Last Updated: November 14, 2025

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