Test Catalog

Test Id : PUPYU

Purines and Pyrimidines Panel, Random, Urine

Useful For
Suggests clinical disorders or settings where the test may be helpful

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 genetic test or proper submission of the test request

There are at least 35 known inherited disorders of purine and pyrimidine metabolism which cause a variety of neurological, immunological, hematological, and renal manifestations.

Highlights

This test provides a quantitative report of abnormal levels of purines and pyrimidines in urine identified via liquid chromatography-tandem mass spectrometry.

Method Name
A short description of the method used to perform the test

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Purines and Pyrimidines Panel, U

Aliases
Lists additional common names for a test, as an aid in searching

Adenine

Adenosine

Deoxyadenosine

Deoxyguanosine

Deoxyinosine

Guanosine

Hyperuricemias

Hypoxanthine

Inosine

Orotic Acid

Pyrimidine

Succinyladenosine

Thymidine

Uracil

Thymine

Uric Acid

Uridine

Xanthine

S-Sulfocysteine

Adenine phosphoribosyltransferase deficiency

Adenosine deaminase deficiency

Adenosine monophosphate deaminase deficiency

Adenylosuccinate lyase deficiency

AICAr transformylase/imp cyclohydrolase deficiency

Beta-ureidopropionase deficiency

Carbamoyl phosphate synthetase deficiency

Deoxyguanosine kinase deficiency

Dihydropyrimidinase deficiency

Dihydropyrimidine dehydrogenase deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria

Lesch-Nyhan syndrome

Molybdenum cofactor deficiency

Phosphoribosyl pyrophosphate synthetase deficiency

Primary hyperoxaluria

Purine metabolism disorders

Purine nucleoside phosphorylase deficiency

Pyrimidine metabolism disorders

Secondary hyperuricemia

Sulfite oxidase deficiency

Thymidine phosphorylase deficiency

Uridine monophosphate synthetase deficiency

Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency

Xanthine dehydrogenase deficiency

Xanthine dehydrogenase/xanthine aldehyde oxidase/sulfite oxidase combined deficiency

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 3 mL

Collection Instructions: Collect a random urine specimen.

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

2 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Urine Frozen (preferred) 90 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

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 genetic test or proper submission of the test request

There are at least 35 known inherited disorders of purine and pyrimidine metabolism which cause a variety of neurological, immunological, hematological, and renal manifestations.

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 play a role in signal transduction and translation. Purines and pyrimidines originate primarily from endogenous synthesis, with dietary sources contributing only a small amount. The end-product of purine metabolism is uric acid (2,6,8-trioxypurine), which must be excreted continuously to avoid toxic accumulation.

 

Disorders of purine and pyrimidine metabolism can involve all organ systems at any age. The diagnosis of the specific disorders of purine and pyrimidine metabolism is based upon the clinical presentation of the patient, determination of specific concentration patterns of purine and pyrimidine metabolites, and confirmatory enzyme assays and molecular genetic testing.

 

Numerous inborn errors of purine and pyrimidine metabolism have been documented. Clinical features are dependent upon the specific disorder but represent a broad spectrum of manifestations that may include immunodeficiency, developmental delay, nephropathy, and neurologic involvement. The most common disorder of purine metabolism is a deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT) which causes 3 overlapping clinical syndromes, depending on the amount of residual enzyme activity. The majority of patients with HPRT deficiency have classic Lesch-Nyhan syndrome, a severe X-linked disorder characterized by crystals in urine, neurologic impairment, mild to severe intellectual disability, development of self-injurious behavior, and uric acid nephropathy.

 

Treatments for Lesch-Nyhan syndrome include allopurinol, urine alkalinization and hydration for nephropathy, and supportive management of neurologic symptoms. For milder forms of HPRT deficiency, treatment that can mitigate the potentially devastating effects of these diseases are disorder dependent; therefore, early recognition through screening and subsequent confirmatory testing is highly desirable.

 

Urine S-sulfocysteine is elevated in 2 disorders with similar clinical phenotypes: molybdenum cofactor deficiency (MoCD) and isolated sulfite oxidase deficiency. Molybdenum is an important trace element that is biosynthesized into an important cofactor, which is essential for the proper functioning of the enzymes, xanthine oxidase, sulfite oxidase, and aldehyde oxidase, in addition to nitrogenases and nitrate reductase. Four genes are important in mediating the biosynthetic pathway to create molybdenum cofactor, MOCS1, MOCS2, MOCS3, and GPHN (gephyrin). The 3 clinical types of MoCD are autosomal recessive diseases resulting from 2 disease-causing variants in the respective causative gene. MoCDs result in a progressive neurodegenerative disease that manifests with seizures and brain abnormalities in the first weeks to months of life. The most common type of MoCD is MoCD A, caused by variants in MOCS1 and resulting in neonatal or infantile onset seizures and postnatal encephalopathy with rapidly progressive neurodegeneration. Infants with MoCD B (MOCS2 or MOCS3), and C (GPHN) have all been reported but are rare. Infants with MoCD have increased S-sulfocysteine and hypoxanthine and decreased uric acid concentrations in urine. The treatment for MoCD A only is cyclic pyranopterin monophosphate infusion and is most effective when initiated early.

 

Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by deficiency of the enzyme sulfite oxidase, which results in progressive neurodegenerative disease in most cases. ISOD is the result of disease-causing variants in the SUOX gene. ISOD is a spectrum of disease ranging from severe, early onset disease that appears in the first days of life with seizures, feeding issues, and neurologic issues causing abnormal muscle tone, to mild, later onset disease manifesting after 6 months of age with developmental delay or regression, movement issues, which can be episodic, and ectopia lentis in some cases. Infants with ISOD have increased S-sulfocysteine and normal hypoxanthine concentrations in urine. Treatment is largely symptomatic, with medication for seizures and movement/neurologic issues. Unfortunately, no treatment for the underlying metabolic defect is currently available. Prevalence is unknown, but ISOD is likely underdiagnosed.

 

Hereditary xanthinuria results in kidney stones and, less commonly, muscle pain and cramping caused by accumulation of xanthine that forms crystals in the kidneys and muscle tissue. There are 2 types of hereditary xanthinuria: type I caused by deficiency of xanthine dehydrogenase resulting from disease-causing variants in the XDH gene, and type II caused by deficiency of molybdenum cofactor sulfurase resulting from variants in the MOCOS gene. Individuals with xanthinuria have increased xanthine and decreased uric acid concentrations in urine. The incidence of both types of hereditary xanthinuria is about 1 in 69,000 individuals.

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.

Age range 

0-3 years

4-6 years

7-12 years

13-18 years

>18 years

Uracil

< or =50

< or =30

< or =25

< or =20

< or =20

Thymine

< or =3

< or =3

< or =3

< or =3

< or =3

Adenine

< or =3

< or =3

< or =3

< or =3

< or =3

Hypoxanthine

< or =65

< or =30

< or =30

< or =30

< or =30

Xanthine

< or =54

< or =21

< or =35

< or =15

< or =20

Orotic

< or =4

< or =4

< or =3

< or =3

< or =5

Dihydroorotic acid

< or =3

< or =3

< or =3

< or =3

< or =3

Uric Acid

350-2500

200-2000

200-1400

150-700

70-700

Deoxythymidine

< or =3

< or =3

< or =3

< or =3

< or =3

Deoxyuridine

< or =3

< or =3

< or =3

< or =3

< or =3

Thymidine

< or =3

< or =3

< or =3

< or =3

< or =3

Uridine

< or =10

< or =3

< or =3

< or =3

< or =3

Deoxyadenosine

< or =3

< or =3

< or =3

< or =3

< or =3

Deoxyinosine

< or =3

< or =3

< or =3

< or =3

< or =3

Deoxyguanosine

< or =3

< or =3

< or =3

< or =3

< or =3

Adenosine

< or =3

< or =3

< or =3

< or =3

< or =3

Inosine

< or =6

< or =3

< or =3

< or =3

< or =3

Guanosine

< or =4

< or =3

< or =3

< or =3

< or =3

5-Aminoimidazole-4-carboxamide 1-beta-D-ribofuranoside (AICAR)

< or =3

< or =3

< or =3

< or =3

< or =3

Succinyladenosine

< or =16

< or =3

< or =3

< or =3

< or =3

S-Sulfocysteine

< or =11

< or =5

< or =5

< or =5

< or =5

Dihydrouracil

< or =15

< or =6

< or =6

< or =6

< or =6

Dihydrothymine

< or =11

< or =3

< or =3

< or =3

< or =3

N-Carbamoyl-B-alanine

< or =30

< or =10

< or =10

< or =10

< or =10

N-Carbamoyl-B-aminoisobutyric
acid

< or =20

< or =3

< or =3

< or =3

< or =3

 

All results reported as mmol/mol creatinine

Interpretation
Provides information to assist in interpretation of the test results

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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Additional confirmatory testing via enzyme assays and molecular genetic testing is required for follow-up of abnormal results.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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 5, 2022. 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 Sep;37(5):669-686

4.. Balasubramaniam S, Duley JA, Christodoulou J: Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis. 2014 Sep;37(5):687-698

5. Misko AL, Liang Y, Kohl JB, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020 Jul 14;6(4):e486

Method Description
Describes how the test is performed and provides a method-specific reference

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 Nov;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 Feb 28;14(2):e0212458. doi: 10.1371/journal.pone.0212458)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Tuesday, Thursday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 7 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) 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 US 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 Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
PUPYU Purines and Pyrimidines Panel, U 79673-0
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
42201 Interpretation (PUPYU) 79677-1
41978 Uracil 25140-5
38249 Thymine 48157-2
38239 Adenine 59203-0
41980 Hypoxanthine 38366-1
41981 Xanthine 38371-1
38246 Orotic Acid 17869-9
38251 Dihydroorotic 78694-7
41979 Uric Acid 34385-5
38252 Deoxythymidine 59215-4
38253 Deoxyuridine 59193-3
38248 Thymidine 59215-4
38250 Uridine 59216-2
38241 Deoxyadenosine 59199-0
38243 Deoxyinosine 59202-2
38242 Deoxyguanosine 59201-4
38245 Inosine 59210-5
38244 Guanosine 78691-3
38254 AICAR 75151-1
38247 Succinyladenosine 59214-7
38255 Dihydrouracil 79685-4
38256 Dihydrothymine 78693-9
38257 N-carbamoyl-beta-alanine 59251-9
38258 N-carbamoyl-beta-aminoisobutyric Acid 79647-4
42200 Reviewed By 18771-6
38240 Adenosine 75160-2
606745 S-Sulfocysteine 33876-4

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports