Purine and Pyrimidine Pattern, Cerebrospinal Fluid — Imprint
A specialized analysis of purine and pyrimidine metabolites in cerebrospinal fluid used to help evaluate suspected disorders of nucleotide metabolism.
["This test can help identify certain inherited metabolic disorders affecting purine or pyrimidine metabolism."]
Key facts at a glance
- LOINC
- 79666-4
- Short code
- Purine + Pyrimidine pattern CSF-Imp
- Synonyms
- Purine + Pyrimidine pattern CSF-Imp
- Category
- urine
- Sample
- urine
- Container
- Sterile urine container
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Specimen volume
- 10 mL
- Stability
- Room temperature: 2h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
What is this test?
This is a specialized laboratory analysis that measures and identifies purine and pyrimidine-related compounds in cerebrospinal fluid, the fluid surrounding the brain and spinal cord. These compounds are involved in building and breaking down DNA and other cellular molecules.
Why might I need this test?
The test may be ordered when a child or adult has unexplained developmental problems, seizures, movement disorders, or other symptoms suggesting an inherited metabolic disorder. It can help evaluate abnormalities in the metabolism of purines or pyrimidines.
How is the test performed?
A small sample of cerebrospinal fluid is collected through a lumbar puncture, or spinal tap. The laboratory then uses an imprint-based analytical method to examine the pattern of purine and pyrimidine compounds present in the sample.
How do I prepare for the test?
Preparation is generally the same as for other cerebrospinal fluid tests. Follow the clinician's instructions about positioning, local anesthetic use, and activity after the lumbar puncture. No food or medication changes are usually required specifically for this analysis.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
An abnormal purine or pyrimidine pattern may suggest an inherited disorder of nucleotide metabolism, such as Lesch-Nyhan syndrome, adenylosuccinate lyase deficiency, or dihydropyrimidine dehydrogenase deficiency. The result is interpreted together with symptoms, other laboratory studies, and sometimes genetic testing, so an abnormal pattern alone does not establish a diagnosis.
Short name
CSF purine and pyrimidine pattern
Frequently asked questions
Does this test require a spinal tap?
Is this the same as a routine CSF cell count?
Can this test diagnose a genetic disorder by itself?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy