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Urea Cycle Diseases: All

Test Information

Title
Urea Cycle Diseases: All
Lab
Category
Metabolic
Test Name (CMS Title)
Urea Cycle Disorders
Gene/Platform/Region List
ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, DBT, DLD, GLUD1, GLUL, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing

Last Updated: December 09, 2025

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