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5-Methyltetrahydrofolate (CSF)

CPT: 82542
Updated on 08/26/2022
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Special Instructions

This assay is available in New York State

This assay is available in New York State


Specimen Requirements


Specimen

Cerebrospinal Fluid (CSF)


Volume

1.0 mL


Minimum Volume

0.5 mL


Container

Sterile screw capped vial


Collection

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


Use

CSF 5-Methyltetrahydrofolate (NC01) 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.


Methodology

HPLC/Electrochemistry


Recommended MNG Kits

CSF Collection Tubes (set of 5 tubes per kit)


LOINC® Map

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