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Test ID: PUPYU    
Purines and Pyrimidines Panel, Urine

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Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

At least 35 known inherited disorders of purine and pyrimidine metabolism exist representing a diversity of neurological, immunological, hematological, and renal manifestations.

Highlights

This test provides a quantitative report of abnormal levels of purines and pyrimidines identified via liquid chromatography-mass spectrometry.

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Purines and Pyrimidines Panel, U

Aliases Lists additional common names for a test, as an aid in searching

Adenine
Adenosine
Deoxyadenosine
Deoxyguanosine
Deoxyinosine
Guanosine
Hyperuricemias
Hypoxanthine
Inosine
Orotic Acid
Pyrimidine
Succinyladenosine
Thymidine
Uracil
Thymine
Uric Acid
Uridine
Xanthine
S-Sulfocysteine
Adenine phosphoribosyltransferase deficiency
Adenosine deaminase deficiency
Adenosine monophosphate deaminase deficiency
Adenylosuccinate lyase deficiency
AICAr transformylase/imp cyclohydrolase deficiency
Beta-ureidopropionase deficiency
Carbamoyl phosphate synthetase deficiency
Deoxyguanosine kinase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Hyperornithinemia-hyperammonemia-homocitrullinuria
Lesch-Nyhan syndrome
Molybdenum cofactor deficiency
Phosphoribosyl pyrophosphate synthetase deficiency
Primary hyperoxaluria
Purine metabolism disorders
Purine nucleoside phosphorylase deficiency
Pyrimidine metabolism disorders
Secondary hyperuricemia
Sulfite oxidase deficiency
Thymidine phosphorylase deficiency
Uridine monophosphate synthetase deficiency
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Xanthine dehydrogenase deficiency
Xanthine dehydrogenase/xanthine aldehyde oxidase/sulfite oxidase combined deficiency