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Purines and Pyrimidines Panel, U
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000613144.1
INHERITED DISEASEMETABOLIC DISEASE
Registered in GTR: 2024-01-29
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Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring
Conditions (1): Help
Inborn disorder of purine or pyrimidine metabolism
Analytes (3): Help
Purines; Pyrimidines; Uric acid
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Evaluating patients with symptoms suspicious for disorders of purine and …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
PUPYU
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/41977#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 3
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of purine metabolism: clinical update and therapies. J Inherit Metab Dis. 2014;37(5):669-86. doi:10.1007/s10545-014-9731-6. Epub 2014 Jun 28. PMID: 24972650.
  • Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis. 2014;37(5):687-98. doi:10.1007/s10545-014-9742-3. Epub 2014 Jul 17. PMID: 25030255.

Target population: Help
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.
View citations (5)
  • Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of purine metabolism: clinical update and therapies. J Inherit Metab Dis. 2014;37(5):669-86. doi:10.1007/s10545-014-9731-6. Epub 2014 Jun 28. PMID: 24972650.
  • Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis. 2014;37(5):687-98. doi:10.1007/s10545-014-9742-3. Epub 2014 Jul 17. PMID: 25030255.
  • 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. doi:10.1212/NXG.0000000000000486. Epub 2020 Jul 14. PMID: 32802950.
  • 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 5, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225089443
  • 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
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
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 … View more
View citations (2)
  • Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples. la Marca G, et al. J Mass Spectrom. 2006;41(11):1442-52. doi:10.1002/jms.1115. PMID: 17061293.
  • Monostori P, Klinke G, Hauke J, Richter S, Bierau J, Garbade SF, Hoffmann GF, Langhans CD, Haas D, Okun JG. 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. Epub 2019 Feb 28. PMID: 30817767.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery ranged from 84%-118%. Intra assay precision was performed at 3 levels: CV results ranged from 2.27%-17.5% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 3.7%-24.4% (N=20 each); the high CV of 24.4% is due to low … View more
Assay limitations: Help
Additional confirmatory testing via enzyme assays and molecular genetic testing is required for follow-up of abnormal results.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS

Description of PT method: Help
Formal PT program

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.