Urea Cycle Diseases: High ASA

Test Information

Title
Urea Cycle Diseases: High ASA
Lab
Category
Metabolic
Test Name (CMS Title)
Urea Cycle Disorders
Gene/Platform/Region List
ASL
Test type
Single Gene
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Argininosuccinic aciduria, Arginino succinase deficiency, argininosuccinate lyase deficiency, argininosuccinate acid lyase deficiency, ASA, ASL deficiency

Last Updated: November 14, 2025

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