Urea Cycle Diseases: Low citrulline

Test Information

Title
Urea Cycle Diseases: Low citrulline
Lab
Category
Metabolic
Test Name (CMS Title)
Urea Cycle Disorders
Gene/Platform/Region List
CPS1, NAGS, OTC
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 I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1

Last Updated: November 14, 2025

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