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5-Methyltetrahydrofolate (CSF)

CPT: 82542
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Special Instructions

This assay is available in New York State

Specimen Requirements


Cerebrospinal Fluid (CSF)


1.0 mL

Minimum Volume

0.5 mL


Sterile screw capped vial


Collect entire sample into a single sterile tube

Storage Instructions

Freeze as soon as possible after collection

Stability Requirements

Room Temperature: Not stable; Refrigerated: 24 hours; Frozen: 72 hours @ -20C, Indefinitely @ -80C; Freeze/Thaw: None

Causes for Rejection

Bloody CSF; Received thawed

Test Details


CSF 5-Methyltetrahydrofolate is useful for determining a deficiency of folate in the central nervous system. CSF 5-Methyltetrahydrofolate (NC01) may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing).

CLINICAL 5-Methyltetrahydrofolate (5-MTHF) is the predominant form of folate in cerebrospinal fluid (CSF). Low CSF 5-MTHF levels are associated with inborn errors of metabolism affecting folate metabolism, dietary deficiency of folate, cerebral folate syndromes and Kearns-Sayre syndrome. Symptoms may include, anemia, developmental delay, seizures, depression and dementia.



Recommended MNG Kits

CSF Collection Tubes (set of 5 tubes per kit)


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620008 5-Methyltetrahydrofolate (CSF) 47547-5 620000 5-MTHF Result 47547-5
620008 5-Methyltetrahydrofolate (CSF) 47547-5 620001 5-MTHF Interpretation N/A
620008 5-Methyltetrahydrofolate (CSF) 47547-5 630809 PDF 80563-0