Argininosuccinic aciduria, Citrullinemia type I, Ornithine transcarbamylase (OTC) deficiency
Orotic Acid Analysis
Orotic Acid Analysis
This test measures orotic acid in urine and can be used to help identify the underlying cause of hyperammonemia. Orotic acid is a chemical that is overproduced in an alternative pathway when there is a block in the urea cycle. Excessive amounts of orotic acid are typically found in ornithine transcarbamylase (OTC) deficiency, citrullinemia, and often in argininosuccinic aciduria.
Technical Information
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Specimen Requirements
Urine: A minimum of 2 mL random catch urine
Transport Instructions
Urine: Specimen should be frozen after collection and shipped frozen, preferably on dry ice
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC