Purine and Pyrimidine Panel, Urine
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
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
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Useful for evaluating treatment. Analysis of uracil, uric acid,
hypoxanthine, and xanthine from random collection.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Purine and Pyrimidine Panel, U
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Container/Tube: Plastic, 10-mL urine tube (Supply T068)
Specimen Volume: 3 mL
Collection Instructions: Collect a random urine specimen.
Additional Information: Patient's age is required.
1. 1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
2. 2. If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Purines (adenine, guanine, xanthine, hypoxanthine) and pyrimidines (uracil, thymine, cytosine, orotic acid) are involved in all biological processes, providing the basis for storage, transcription, and translation of genetic information as RNA and DNA. Purines are required by all cells for growth and survival and also play a role in signal transduction and translation. Purines and pyrimidines originate primarily from endogenous synthesis, with dietary sources playing only a minor role. The end product of purine metabolism is uric acid (2,6,8-trioxypurine), which must be excreted continuously to avoid toxic accumulation.
Due to the various roles these compounds play, the enzymes catalyzing purine and pyrimidine metabolism function as "housekeeping" enzymes. Accordingly, disorders of purine and pyrimidine metabolism can involve all organ systems at any age.
Lesch-Nyhan syndrome (complete deficiency of hypoxanthine-guanine phosphoribosyltransferase) was described in 1964 as the first disorder of purine metabolism. It is an X-linked disorder characterized by severe neurologic impairment, the development of a compulsive self-destructive behavior, and uric acid nephropathy.
The diagnosis of the various disorders of purine and pyrimidine metabolism (more than 30 enzyme deficiencies have been described although only 17 are known to cause disease) is based on the clinical presentation of the patient, determination of specific concentration patterns of purine and pyrimidine metabolites, followed by confirmatory enzyme assays and/or molecular genetic testing.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
0-2 years: < or =31 mmol/mol creatinine
3-5 years: < or =30 mmol/mol creatinine
6-11 years: < or =28 mmol/mol creatinine
12-17 years: < or =26 mmol/mol creatinine
> or =18 years: < or =35 mmol/mol creatinine
0-2 years: < or =2,249 mmol/mol creatinine
3-5 years: < or =1,900 mmol/mol creatinine
6-11 years: < or =1,398 mmol/mol creatinine
12-17 years: < or =698 mmol/mol creatinine
> or =18 years: < or =669 mmol/mol creatinine
0-2 years: <53 mmol/mol creatinine
3-5 years: <49 mmol/mol creatinine
6-11 years: <43 mmol/mol creatinine
12-17 years: <36 mmol/mol creatinine
> or =18 years: <40 mmol/mol creatinine
0-2 years: <49 mmol/mol creatinine
3-5 years: <41 mmol/mol creatinine
6-11 years: <30 mmol/mol creatinine
12-17 years: <16 mmol/mol creatinine
> or =18 years: <51 mmol/mol creatinine
A positive test result could be due to a genetic or nongenetic condition. Additional confirmatory testing would be required.
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 at the Mayo Clinic or elsewhere, and a phone number of the laboratory directors in case the referring physician has additional questions.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
No significant cautionary statements.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Jurecka A: Inborn errors of purine and pyrimidine metabolism. J Inherit Metab Dis 2009;32:247-263
Method Description Describes how the test is performed and provides a method-specific reference
Diluted, filtered urine is added to an internal standard mixture and analyzed for uracil, uric acid, xanthine, and hypoxanthine by liquid-chromatography tandem mass spectrometry (LC-MS/MS). LC-MS/MS is performed using a mobile phase composed of 50-mM ammonium formate, pH=5, and 1:1 mixture of 50-mM ammonium formate, pH=5:methanol, and run using a gradient. An Xterra C18 column (2.1 x 150 mm) is used to separate xanthine and hypoxanthine from the bulk of the specimen matrix. The MS/MS is operated in the selected reaction monitoring (SRM) scanning mode. The ratios of the extracted peak areas of xanthine and hypoxanthine to an internal standard are used to calculate the concentration of xanthine and hypoxanthine present.(Ito T, Van Kuilenburg AP, Bootsma AH, et al: Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Clin Chem 2000;46:445-452)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Tuesday; 8 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|