Urine Orotic Acid Analysis (Test 1210)

CPT Code(s): 82139, 82570

Ordering Recommendation: This test is intended to be used in the detection and management of patients with inherited metabolic defects associated with orotic aciduria including urea cycle disorders and Uridine Monophosphate Synthetase deficiency (OMIM 258900). Orotic acid elevations can help differentiate X-linked Ornithine Transcarbamylase deficiency (OTC: OMIM 311250) from other proximal urea cycle disorders.

Synonyms: Urine orotate

Methodology: Liquid chromatography tandem mass spectrometry (LC-MS/MS)

Performed: Weekly

Reported: 7 days or less

Collect: Frozen urine. Random clean catch urine collected in a container free of preservatives/additives.

Specimen Volume: 0.5 mL (minimum of 0.1 mL)

Storage/Transport: Must be stored at -20°C. Ship frozen samples on 3-5 lbs. of dry ice in an insulated container using an overnight courier.

Unacceptable Conditions: Specimen requirements listed above not met. Sample fully thawed during shipment. Sample has evidence of lipemia or contamination with lotions, powders or other foreign substances.

Stability: 60 days freezer