Your Laboratory Test: What It Is, Why You Need It, and What to Expect
This test measures the amount of 2,8-dihydroxyadenine, a substance that can accumulate in the body due to a rare genetic condition, in the fluid surrounding the brain and spinal cord.
{"The test analyzes cerebrospinal fluid (CSF) for 2,8-dihydroxyadenine levels","It helps diagnose a rare genetic disorder called APRT deficiency","Abnormal results may indicate problems with how the body processes certain compounds","The test requires a spinal tap (lumbar puncture) to collect the CSF sample","Results help doctors determine if certain neurological symptoms are related to this metabolic condition"}
Key facts at a glance
- LOINC
- 79680-5
- Short code
- 2,8-DHA CSF
- Synonyms
- 2,8-dihydroxyadenine CSF-sCnc
- Category
- chemistry
- Sample
- csf
- Container
- Sterile polypropylene cryovial
- Units
- N/A
- Ref low
- 0
- Ref high
- 0.5
- Critical range
- — – 2 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
- CPT
- 82158
- SNOMED
- 122465009
- Specimen volume
- 1-2 mL CSF
- Stability
- Store at -20°C if analysis within 7 days; -80°C for longer storage. Avoid repeated freeze-thaw cycles.
- Hemolysis max
- 200
- TAT
- 72–168 hours
- Order
- routine
This is a laboratory test that analyzes a sample of your blood, urine, or other body fluid to help your doctor evaluate how your body is working and look for signs of illness or other health conditions.
The 2,8-dihydroxyadenine test measures the concentration of 2,8-dihydroxyadenine in your cerebrospinal fluid (CSF). CSF is the clear, protective fluid that surrounds your brain and spinal cord. This test is part of chemistry testing and helps doctors understand if there are abnormal levels of this substance in your central nervous system.
Your doctor may order this test as part of a routine checkup, to help diagnose the cause of symptoms you are having, to monitor an ongoing health problem, or to find out how well a treatment is working for you.
Your doctor may order this test if they suspect you have a rare inherited disorder called adenine phosphoribosyltransferase (APRT) deficiency. This condition affects how your body breaks down a compound called adenine. When adenine cannot be processed properly, it converts into 2,8-dihydroxyadenine, which can form crystals and cause health problems. The test may also be used to evaluate certain neurological symptoms that could be related to metabolic disorders.
A trained health professional will collect your sample, usually by drawing a small amount of blood from a vein in your arm or by asking you to provide a urine specimen, using standard sterile procedures to keep the process safe and comfortable.
The CSF sample is collected through a procedure called a lumbar puncture, commonly known as a spinal tap. During this procedure, a healthcare provider inserts a thin needle into the lower back to withdraw cerebrospinal fluid. The area is numbed first to minimize discomfort. The collected fluid is then sent to a laboratory for analysis.
Your results will show whether your measurements fall within the normal reference range. Values that are higher or lower than expected may point to a health issue, but only your doctor can interpret them together with your symptoms, medical history, and other test findings.
Results are reported as N/A (not applicable) for units in this specific test format. Your doctor will interpret the results in the context of your symptoms, medical history, and other test findings. Abnormal levels of 2,8-dihydroxyadenine in CSF may indicate metabolic disorders that require further evaluation and management.
Reference range
2,8-dihydroxyadenine not detected or < 0.5 μmol/L in CSFN/A
No specific fasting required. Patient should be informed of lumbar puncture procedure and consent obtained. Routine CSF collection precautions apply.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
The 2,8-dihydroxyadenine test in CSF is primarily used to support diagnosis of APRT deficiency, a rare genetic disorder. This condition is inherited and affects the enzyme adenine phosphoribosyltransferase, which is needed to break down adenine. When this enzyme is missing or not working properly, adenine builds up and converts to 2,8-dihydroxyadenine, which can form crystals in urine (causing kidney stones) and potentially affect the nervous system. Detecting elevated 2,8-dihydroxyadenine in CSF can help explain certain neurological symptoms and guide appropriate treatment, which typically includes dietary modifications and medication to prevent crystal formation.
Frequently asked questions
Is this a common test?
Does the lumbar puncture hurt?
How long does it take to get results?
What happens if my results are abnormal?
Can this condition be treated?
Sources
- 1
- 2
- 3LOINC Code ReferenceSource
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