Orotic Acid Analysis

Test Information

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.

Turnaround Time

10 days

CPT Code(s)

83921

Cost

$100

Indications

Patients with hyperammonemia

Methodology

liquid chromatography-tandem mass spectroscopy (LC-MS/MS)

Specimen Requirements

5 ml of urine is requested. The minimum volume is 1.5 ml. Collect urine in a sterile container and freeze after collection.

Transport Instructions

Urine should be sent frozen on dry ice by courier or 24 hour delivery.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Analyte Analysis, Analytes and Biomarkers, Biochemical Testing
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Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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