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Order 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
Plasma Frozen 90 days

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

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

Method Description

Filtered EDTA plasma is mixed with an internal standard mixture and analyzed for uracil, thymine, adenine, hypoxanthine, xanthine, dihydroorotic, uric acid, deoxythymidine, deoxyuridine, uridine, deoxyinosine, deoxyguanosine, inosine, guanosine, 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.(Unpublished Mayo method)

Day(s) Performed

Tuesday

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.