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5-Methyltetrahydrofolate (CSF)

CPT: 82542
Updated on 05/1/2020

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

HPLC

HPLC/Electrochemistry


Recommended MNG Kits

CSF Collection Tubes (set of 5 tubes per kit)