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
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

In The News