Purines and Pyrimidines Panel, Random, Urine
Use
Useful for evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism, monitoring patients with disorders of purine and pyrimidine metabolism, and laboratory evaluation of primary and secondary hyperuricemias. It aids in screening inherited disorders of purine and pyrimidine metabolism, of which at least 35 are known, presenting across neurological, immunological, hematological, and renal manifestations. The test profiles abnormal urinary levels of purines and pyrimidines quantitatively by LC‑MS/MS.
Special Instructions
Ordering guidance indicates this is the recommended screening test for suspected purine and pyrimidine metabolism disorders when clinical features are nonspecific; for conditions suggestive of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, or hereditary xanthinuria, SSCTU / S‑Sulfocysteine Panel, Urine should be ordered instead (SSCTU will be canceled if ordered alongside this test). Patient’s age is required. If not ordering electronically, use the Biochemical Genetics Test Request (T798).
Limitations
This test was developed and its performance characteristics determined by Mayo Clinic under CLIA standards, and has not been cleared or approved by the US FDA (i.e., it is not FDA‑approved).
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 79673-0
- 79677-1
- 25140-5
- 48157-2
- 59203-0
- 38366-1
- 38371-1
- 17869-9
- 78694-7
- 34385-5
- 59215-4
- 59193-3
- 59216-2
- 59199-0
- 59202-2
- 59201-4
- 59210-5
- 78691-3
- 75151-1
- 59214-7
- 79685-4
- 78693-9
- 59251-9
- 79647-4
- 18771-6
- 75160-2
- 33876-4
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
3 mL
Minimum Volume
2 mL
Container
Plastic, 10‑mL urine tube
Collection Instructions
Collect a random urine specimen.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 90 days |
