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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 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
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

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.