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Your Laboratory Test: What It Is, Why You Need It, and What to Expect

Published: August 9, 2026Updated: August 16, 2026

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.

Quick summary

{"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"}

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

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

Specimen: csf

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?
No, this is a specialized test. It is not part of routine blood work and is only ordered when doctors suspect specific rare metabolic disorders. Most patients will never need this test.
Does the lumbar puncture hurt?
A lumbar puncture is performed under local anesthesia, so you should not feel pain during the procedure. You may feel some pressure or discomfort when the needle is inserted. Afterward, you may have a mild headache, which can be managed with rest and fluids.
How long does it take to get results?
Results may take several days to a week because this is a specialized test that requires specific laboratory equipment and expertise. Your doctor's office will contact you when results are available.
What happens if my results are abnormal?
If your results show elevated 2,8-dihydroxyadenine in CSF, your doctor will discuss what this means for your health. They may recommend additional tests, genetic counseling, or refer you to a specialist (such as a metabolic disorder specialist or neurologist) for further evaluation and treatment.
Can this condition be treated?
Yes, APRT deficiency can be managed. Treatment typically includes drinking plenty of fluids, following a low-purine diet, and taking medications such as allopurinol to reduce the production of 2,8-dihydroxyadenine. Early diagnosis and treatment can help prevent complications like kidney stones and kidney damage.
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This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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