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 `next-day 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
Falecia Thomas, MS, CGC

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

In The News