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Order 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, U

Specimen Type

Urine


Ordering 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
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
acid

≤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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

Genetics Test Information

There are at least 35 known inherited disorders of purine and pyrimidine metabolism which cause a variety of neurological, immunological, hematological, and renal manifestations.