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Evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism
Monitoring patients with disorders of purine and pyrimidine metabolism
Laboratory evaluation of primary and secondary hyperuricemias
At least 35 known inherited disorders of purine and pyrimidine metabolism exist representing a diversity of neurological, immunological, hematological, and renal manifestations.
This test provides a quantitative report of abnormal levels of purines and pyrimidines identified via liquid chromatography-mass spectrometry.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)