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Test Code PUPYP Purines and Pyrimidines Panel, Plasma


Ordering Guidance


The preferred test to rule-out inherited disorders of purine and pyrimidine metabolism is PUPYU / Purines and Pyrimidines Panel, Random, Urine.

 

This test does not evaluate succinyladenosine. If succinyladenosine analysis is needed, order PUPYU / Purines and Pyrimidines Panel, Random, Urine.



Necessary Information


Patient's age is required.



Specimen Required


Collection Container/Tube: Lavender top (EDTA)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions:

1. Centrifuge at 4° C and aliquot plasma into plastic vial.

2. Send plasma frozen.


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

 

Assessing tolerance for fluoropyrimidine drugs used in cancer treatment

 

Aiding in the diagnosis of individuals with suspected dihydropyrimidine dehydrogenase deficiency

Method Name

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

Reporting Name

Purines and Pyrimidines Panel, P

Specimen Type

Plasma

Specimen Minimum Volume

0.2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen 90 days

Reference Values

Age range

0-1 years

>1-4 years

5-18 years

>18 years

Uracil

≤2

≤2

≤2

≤2

Thymine

≤2

≤2

≤2

≤2

Adenine

≤3

≤3

≤3

≤3

Hypoxanthine

≤35

≤17

≤15

≤15

Xanthine

≤6

≤6

≤6

≤3

Dihydroorotic

≤2

≤2

≤2

≤2

Uric Acid

100-450

150-500

150-500

150-500

Deoxythymidine

≤2

≤2

≤2

≤2

Deoxyuridine

≤2

≤2

≤2

≤2

Uridine

≤14

≤9

≤9

≤9

Deoxyinosine

≤2

≤2

≤2

≤2

Deoxyguanosine

≤2

≤2

≤2

≤2

Inosine

≤2

≤2

≤2

≤2

Guanosine

≤2

≤2

≤2

≤2

Dihydrouracil

≤3

≤3

≤3

≤3

Dihydrothymine

≤2

≤2

≤2

≤2

N-carbamoyl- beta-alanine

≤2

≤2

≤2

≤2

N-carbamoyl- beta-aminoisobutryic acid

≤2

≤2

≤2

≤2

 

All results reported as nmol/mL

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;37:669-686

4. Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis. 2014;37:687-698

Day(s) Performed

Tuesday

Report Available

3 to 9 days

Performing 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
PUPYP Purines and Pyrimidines Panel, P 79665-6

 

Result ID Test Result Name Result LOINC Value
92310 Interpretation (PUPYP) 79659-9
92292 Uracil 75152-9
92293 Thymine 75121-4
606842 Adenine 75131-3
92294 Hypoxanthine 75135-4
92295 Xanthine 75144-6
92296 Dihydroorotic 79654-0
92297 Uric Acid 14933-6
92298 Deoxythymidine 48162-2
92299 Deoxyuridine 47957-6
92300 Uridine 75159-4
92301 Deoxyinosine 75127-1
92302 Deoxyguanosine 75134-7
92303 Inosine 75150-3
92304 Guanosine 79670-6
92305 Dihydrouracil 79682-1
92306 Dihydrothymine 79669-8
92307 N-carbamoyl-B-alanine 79656-5
92308 N-carbamoyl-B-aminoisobutyric acid 79582-3
92309 Reviewed By 18771-6