Purines and Pyrimidines Panel, Plasma

Casandra

Casandra Test Code MC10290Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID PUPYPCPT Code 82542

Purines and Pyrimidines Panel, Plasma

Clinical Use

Use

This test is useful for evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism. It helps in monitoring patients with these disorders and is also used in the laboratory evaluation of primary and secondary hyperuricemias. Additionally, the test aids in diagnosing individuals with suspected dihydropyrimidine dehydrogenase deficiency, which can result in severe infant disorders including seizures, intellectual disability, and hypertonia. The test quantitatively reports abnormal levels of purines and pyrimidines in plasma identified via liquid chromatography-tandem mass spectrometry, providing insights into several medical conditions.

Special Instructions

The patient's age is required for the test. If not ordering electronically, a Biochemical Genetics Test Request form must be completed and sent with the specimen. The preferred test to rule out inherited disorders of purine and pyrimidine metabolism is the Purines and Pyrimidines Panel, Random, Urine, as this test does not evaluate succinyladenosine.

Limitations

This test does not evaluate succinyladenosine. Patients should be appropriately monitored if signs of abnormal concentrations of measurable compounds are present. Additional confirmatory testing may be required to follow up on abnormal results.

Test Details

New York Approved