Understanding Your Laboratory Test: A Patient Guide to Testing, Sample Collection, and Interpreting Your Results
This test measures the level of 5-Methyltetrahydrofolate, the active form of folate, in the cerebrospinal fluid to evaluate brain folate metabolism and neurological function.
{"5-MTHF is the active form of folate that crosses into the brain and supports nerve function","The test helps diagnose cerebral folate deficiency, which can cause neurological symptoms","A lumbar puncture (spinal tap) is required to collect the CSF sample","Low levels may be associated with neurodevelopmental disorders, depression, or dementia","Results help doctors determine if folate supplementation may benefit brain health"}
Key facts at a glance
- LOINC
- 47547-5
- Short code
- 5-MTHF CSF
- Synonyms
- 5Me-tetrahydrofolate CSF-sCnc
- Category
- chemistry
- Sample
- csf
- Container
- Sterile CSF collection tube (typically polypropylene or glass tube without additives)
- Units
- N/A
- Ref low
- 40
- Ref high
- 150
- Critical range
- 20 N/A – 200 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 18 years
- Method
- High Performance Liquid Chromatography (HPLC) with electrochemical detection or Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
- CPT
- 82542 (Folate; quantitative, each) or 82528 (5-Methyltetrahydrofolate, serum) - may require special billing
- SNOMED
- 313336005 (5-Methyltetrahydrofolate measurement) or 74910007 (Cerebrospinal fluid specimen)
- Specimen volume
- 1-2 mL of CSF minimum; 2-3 mL preferred for adequate analysis
- Stability
- CSF should be processed within 2-4 hours of collection. If delay expected, refrigerate at 2-8°C. Stable for up to 48 hours refrigerated. Freeze at -70°C for long-term storage. Avoid repeated freeze-thaw cycles.
- Hemolysis max
- 200
- TAT
- 72–168 hours
- Order
- routine
This test is a laboratory analysis performed on a sample of your blood, urine, or other body fluid. It measures specific substances, cells, or markers in your body to help your healthcare provider evaluate how well your organs are functioning, screen for certain conditions, or monitor a diagnosis you already have.
The Cerebrospinal Fluid 5-Methyltetrahydrofolate (5-MTHF) test measures the amount of 5-Methyltetrahydrofolate in your spinal fluid. 5-MTHF is the active, usable form of folate (vitamin B9) that can cross the blood-brain barrier and is essential for proper brain and nervous system function.
This test is important because it provides objective information about your health that cannot be obtained from a physical exam alone. The results can help detect problems early, confirm or rule out a suspected condition, guide treatment decisions, and show how well a therapy is working over time.
Folate in the brain is crucial for producing neurotransmitters (chemical messengers that transmit signals between nerve cells), maintaining healthy nerve cells, and supporting DNA synthesis. When the brain doesn't have enough 5-MTHF, it can lead to cerebral folate deficiency, which may cause various neurological and psychiatric symptoms.
The sample is usually collected at a laboratory, clinic, or hospital. For a blood test, a trained professional will clean the site, typically the inside of your elbow, and draw a small amount of blood into a tube using a needle. For a urine test, you will receive a sterile container and collection instructions. The process is quick and usually causes only mild, brief discomfort.
This test requires a sample of cerebrospinal fluid (CSF), which is collected through a procedure called a lumbar puncture or spinal tap. During this procedure, a healthcare provider inserts a thin needle into the lower back to withdraw a small amount of fluid from around the spinal cord. The area is numbed with local anesthetic to minimize discomfort.
Your results are compared with a reference range, which represents the values seen in most healthy people. A result within that range is generally considered typical, while a value outside it may point to a condition that needs further attention. Factors such as medications, diet, and recent illness can influence results, so an abnormal value does not automatically mean you are sick. Always review your results with your healthcare provider, who can interpret them in the context of your overall health and history.
Results are reported as moles per volume in the CSF. Your healthcare provider will interpret the results based on your specific clinical situation, symptoms, and other test results. Both low and high levels may have clinical significance, and your doctor will discuss what your specific results mean for your health.
Reference range
Reference range: 40-150 nmol/L. Values may vary slightly by laboratory methodology. Consult specific reference intervals provided by testing laboratory.N/A
No fasting required. Procedure involves lumbar puncture (spinal tap) performed by trained physician. Patient should be informed of risks including headache, bleeding, infection, and rare nerve damage. Maintain normal dietary folate intake prior to collection. Inform ordering physician of any folate supplements, anticonvulsants, or medications affecting one-carbon metabolism.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Cerebral folate deficiency: Low 5-MTHF levels in CSF may indicate cerebral folate deficiency, a condition where the brain doesn't have enough folate despite normal blood folate levels. This can contribute to neurological symptoms including cognitive difficulties, developmental delays, movement disorders, and psychiatric symptoms.
Neurological disorders: Abnormal 5-MTHF levels may be associated with various conditions including certain types of dementia (such as Alzheimer's disease), depression, autism spectrum disorders, Parkinson's disease, and certain metabolic disorders.
Folate metabolism evaluation: This test helps doctors understand how folate is being processed and transported into the brain, which can be important for diagnosing inherited folate metabolism disorders.
Treatment guidance: If cerebral folate deficiency is confirmed, treatment with active folate supplements (such as 5-MTHF or folinic acid) may be recommended to help restore proper brain function.
Frequently asked questions
Is fasting required before this test?
How long does the lumbar puncture take?
Is the lumbar puncture painful?
Are there any risks after the procedure?
Can I take my regular medications before the test?
Sources
- 1MedlinePlus - Folic AcidSource
- 2
- 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