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.