Test Id : PUPYP
Purines and Pyrimidines Panel, Plasma
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
Assessing tolerance for fluoropyrimidine drugs used in cancer treatment
Aiding in the diagnosis of individuals with suspected dihydropyrimidine dehydrogenase deficiency
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 plasma identified via liquid chromatography-tandem mass spectrometry.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For information see: Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.
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.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Guanine
Thymidine
Uracil
Thymine
Hypoxanthine
Xanthine
Dihydroorotic Acid
Uric Acid
Deoxythymidine
Deoxyuridine
Uridine
Deoxyinosine
Deoxyguanosine
Inosine
Guanosine
Dihydrouracil
Dihydrothymine
N-carbamoyl-B-alanine
N-carbamoyl-B-aminoisobutyric Acid
Dihydropyrimidine dehydrogenase deficiency
DPD deficiency
Purine disorder
Pyrimidine disorder
Lesch-Nyhan syndrome
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For information see: Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.
Specimen Type
Describes the specimen type validated for testing
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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Collection Container/Tube: Lavender top (EDTA)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions:
1. Centrifuge at 4 degrees C and aliquot plasma into plastic vial.
2. Send plasma frozen.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
0.2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
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 |
|---|---|---|---|
| Plasma | Frozen | 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
Assessing tolerance for fluoropyrimidine drugs used in cancer treatment
Aiding in the diagnosis of individuals with suspected dihydropyrimidine dehydrogenase deficiency
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.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For information see: Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Purines (adenine, guanine, xanthine, hypoxanthine, uric acid) 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.
Over 35 inborn errors of purine and pyrimidine metabolism have been documented. Clinical features are dependent upon the specific disorder but represent a broad spectrum of clinical manifestations that may include immunodeficiency, developmental delay, nephropathy, and neurologic involvement. The most common disorder of purine metabolism is deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT), which usually results in classic Lesch-Nyhan syndrome. Lesch-Nyhan syndrome is an 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.
Dihydropyrimidine dehydrogenase (DPD) deficiency can result in a severe disorder in infancy involving seizures, intellectual disability, microcephaly, and hypertonia. In its mildest form, however, individuals with DPD deficiency may be asymptomatic but are at risk for life-threatening toxic reactions to a certain class of drugs used to treat cancer called fluoropyrimidines (eg, 5-fluorouracil and capecitabine). If individuals with DPD deficiency ingest this medication, they can develop fluoropyrimidine toxicity. This drug toxicity can result in inflammation of the gastrointestinal tract and associated symptoms, as well as abnormal blood counts including neutropenia and thrombocytopenia.
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 | 0-1 years | >1-4 years | 5-18 years | >18 years |
| Uracil | < or =2 | < or =2 | < or =2 | < or =2 |
| Thymine | < or =2 | < or =2 | < or =2 | < or =2 |
| Adenine | < or =3 | < or =3 | < or =3 | < or =3 |
| Hypoxanthine | < or =35 | < or =17 | < or =15 | < or =15 |
| Xanthine | < or =6 | < or =6 | < or =6 | < or =3 |
| Dihydroorotic | < or =2 | < or =2 | < or =2 | < or =2 |
| Uric Acid | 100-450 | 150-500 | 150-500 | 150-500 |
| Deoxythymidine | < or =2 | < or =2 | < or =2 | < or =2 |
| Deoxyuridine | < or =2 | < or =2 | < or =2 | < or =2 |
| Uridine | < or =14 | < or =9 | < or =9 | < or =9 |
| Deoxyinosine | < or =2 | < or =2 | < or =2 | < or =2 |
| Deoxyguanosine | < or =2 | < or =2 | < or =2 | < or =2 |
| Inosine | < or =2 | < or =2 | < or =2 | < or =2 |
| Guanosine | < or =2 | < or =2 | < or =2 | < or =2 |
| Dihydrouracil | < or =3 | < or =3 | < or =3 | < or =3 |
| Dihydrothymine | < or =2 | < or =2 | < or =2 | < or =2 |
| N-carbamoyl- beta-alanine | < or =2 | < or =2 | < or =2 | < or =2 |
| N-carbamoyl- beta-aminoisobutryic acid | < or =2 | < or =2 | < or =2 | < or =2 |
All results reported as nmol/mL
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 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 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
Method Description
Describes how the test is performed and provides a method-specific reference
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)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
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
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.
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
Indicates the location of the laboratory that performs the test
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 account representative. 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. It 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.
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 |
|---|---|---|
| PUPYP | Purines and Pyrimidines Panel, P | 79665-6 |
| 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.
|
|---|---|---|
| 92310 | Interpretation (PUPYP) | 79659-9 |
| 92292 | Uracil | 75152-9 |
| 92293 | Thymine | 75121-4 |
| 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 |
| 606842 | Adenine | 75131-3 |