Orotic Acid

Test description Orotic acid is a chemical overproduced in an alternative pathway when there is a block in the urea cycle. Excessive amounts of orotic acid are usually found in OTC (ornithine transcarbamylase) deficiency, citrullinemia, and often in argininosuccinic aciduria. Orotic acid determination is useful in delineating the cause of hyperammonemia.
Disease name Ornithine transcarbamylase (OTC) deficiency
Citrullinemia
Argininosuccinic aciduria
Indications Patients with hyperammonemia
Methodology Orotic acid is measured by liquid chromatography-tandem mass spectroscopy (LC-MS/MS).
Specimen Requirements > 10 ml urine is needed
Transport Urine should be sent frozen on dry ice by courier or 24 hour delivery.
Turnaround time 10 days
CPT Codes 83921
Cost $100
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Cytogenetics Lab

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