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Ornithine transcarbamylase deficiency

Test Information

Title
Ornithine transcarbamylase deficiency
Lab
Category
Metabolic
Test Name (CMS Title)
Ornithine transcarbamylase deficiency
Gene/Platform/Region List
OTC
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Ornithine transcarbamylase deficiency, Ornithine Carbamoyltransferase Deficiency, OTC Deficiency

Last Updated: December 09, 2025

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