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HelpTest Code LAB1963 Purines and Pyrimidines Panel, Random, Urine
Additional Codes
PUPY U
Useful For
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
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Purines and Pyrimidines Panel, USCH Clinical System Name: Purines/Pyrimidines, Urine
Specimen Type
UrineOrdering Guidance
This is recommended screening test for the initial workup of a suspected disorder of purine and pyrimidine metabolism, particularly when clinical features are nonspecific, and includes measurement of purines, pyrimidines, uric acid, and S-sulfocysteine. If the clinical features are suggestive of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria, order SSCTU / S-Sulfocysteine Panel, Urine.
If this test is ordered with SSCTU, then SSCTU will be canceled.
Necessary Information
Patient's age is required.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 3 mL
Collection Instructions: Collect a random urine specimen.
Specimen Minimum Volume
2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Frozen | 90 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
|
Age range |
0-3 years |
4-6 years |
7-12 years |
13-18 years |
>18 years |
|
Uracil |
≤50 |
≤30 |
≤25 |
≤20 |
≤20 |
|
Thymine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Adenine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Hypoxanthine |
≤65 |
≤30 |
≤30 |
≤30 |
≤30 |
|
Xanthine |
≤54 |
≤21 |
≤35 |
≤15 |
≤20 |
|
Orotic |
≤4 |
≤4 |
≤3 |
≤3 |
≤5 |
|
Dihydroorotic acid |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Uric Acid |
350-2500 |
200-2000 |
200-1400 |
150-700 |
70-700 |
|
Deoxythymidine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Deoxyuridine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Thymidine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Uridine |
≤10 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Deoxyadenosine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Deoxyinosine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Deoxyguanosine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Adenosine |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Inosine |
≤6 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Guanosine |
≤4 |
≤3 |
≤3 |
≤3 |
≤3 |
|
5-Aminoimidazole-4-carboxamide 1-beta-D-ribofuranoside (AICAR) |
≤3 |
≤3 |
≤3 |
≤3 |
≤3 |
|
Succinyladenosine |
≤16 |
≤3 |
≤3 |
≤3 |
≤3 |
|
S-Sulfocysteine |
≤11 |
≤5 |
≤5 |
≤5 |
≤5 |
|
Dihydrouracil |
≤15 |
≤6 |
≤6 |
≤6 |
≤6 |
|
Dihydrothymine |
≤11 |
≤3 |
≤3 |
≤3 |
≤3 |
|
N-Carbamoyl-B-alanine |
≤30 |
≤10 |
≤10 |
≤10 |
≤10 |
|
N-Carbamoyl-B-aminoisobutyric |
≤20 |
≤3 |
≤3 |
≤3 |
≤3 |
All results reported as mmol/mol creatinine
Method Description
Diluted, filtered urine is mixed with an internal standard mixture and analyzed for uracil, thymine, adenine, hypoxanthine, xanthine, orotic, dihydroorotic, deoxythymidine, deoxyuridine, thymidine, uridine deoxyadenosine, deoxyinosine, deoxyguanosine, adenosine, inosine, guanosine, 5-aminoimidazole-4-carboxamide 1-beta-D-ribofuranoside, succinyladensoine, S-sulfocysteine, dihydrouracil, dihydrothymine, n-carbamoyl-beta-alanine, and N-carbamoyl-beta-aminoisobutyric acid by liquid chromatography-tandem mass spectrometry. The ratios of the extracted peak areas of the purine and pyrimidine analytes to the added internal standards are used to calculate the concentration of purines and pyrimidines present in the sample.(la Marca G, Casetta B, Malvagia S, et al. Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples. J Mass Spectrom. 2006;41[11]:1442-1452; Monostori P, Klinke G, Hauke J, et al. Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation. PLoS One. 2019;14[2]:e0212458. doi:10.1371/journal.pone.0212458)
Day(s) Performed
Tuesday, Thursday
TAT: 5 - 18 days
Report Available
3 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PUPYU | Purines and Pyrimidines Panel, U | 79673-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 42201 | Interpretation (PUPYU) | 79677-1 |
| 41978 | Uracil | 25140-5 |
| 38249 | Thymine | 48157-2 |
| 38239 | Adenine | 59203-0 |
| 41980 | Hypoxanthine | 38366-1 |
| 41981 | Xanthine | 38371-1 |
| 38246 | Orotic Acid | 17869-9 |
| 38251 | Dihydroorotic | 78694-7 |
| 41979 | Uric Acid | 34385-5 |
| 38252 | Deoxythymidine | 59215-4 |
| 38253 | Deoxyuridine | 59193-3 |
| 38248 | Thymidine | 59215-4 |
| 38250 | Uridine | 59216-2 |
| 38241 | Deoxyadenosine | 59199-0 |
| 38243 | Deoxyinosine | 59202-2 |
| 38242 | Deoxyguanosine | 59201-4 |
| 38240 | Adenosine | 75160-2 |
| 38245 | Inosine | 59210-5 |
| 38244 | Guanosine | 78691-3 |
| 38254 | AICAR | 75151-1 |
| 38247 | Succinyladenosine | 59214-7 |
| 606745 | S-Sulfocysteine | 33876-4 |
| 38255 | Dihydrouracil | 79685-4 |
| 38256 | Dihydrothymine | 78693-9 |
| 38257 | N-carbamoyl-beta-alanine | 59251-9 |
| 38258 | N-carbamoyl-beta-aminoisobutyric Acid | 79647-4 |
| 42200 | Reviewed By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Aliases: 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