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HelpTest Code PUPYU Purines and Pyrimidines Panel, Random, Urine
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, USpecimen 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 |
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
Interpretation
Abnormal concentrations of measurable compounds will be reported along with an interpretation. The interpretation of an abnormal metabolite pattern includes an overview of the results and of their significance, a correlation to available clinical information, possible differential diagnosis, recommendations for additional biochemical testing and confirmatory studies (enzyme assay, molecular analysis), name and phone number of contacts who may provide these studies, and a phone number of the laboratory directors in case the referring physician has additional questions.
Clinical Reference
1. Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed January 4, 2024. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225089443
2. Nyhan WL, Hoffmann GF, Al-Aqeel AI, Barshop BA. Introduction to the disorders of purine and pyrimidine metabolism. Atlas of Inherited Metabolic Diseases. 4th ed. CRC Press; 2020:495-495
3. Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of purine metabolism: clinical update and therapies. J Inherit Metab Dis. 2014;37(5):669-686
4.. Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis. 2014;37(5):687-698
5. Misko AL, Liang Y, Kohl JB, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020;6(4):e486
Day(s) Performed
Tuesday, Thursday
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.