Test Overview
Test Methodology

HPLC/Electrochemistry

Test Usage

CSF 5-Methyltetrahydrofolate is useful for determining a deficiency of folate in the central nervous system. CSF 5-Methyltetrahydrofolate 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). 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.

Test Details
Analytic Time

10 - 14 days

Soft Order Code
5METH
MiChart Code
5-Methyltetrahydrofolate (CSF)
Laboratory
Sendout
Reference Laboratory
Medical Neurogenetics (MNG) NC01
Section
Special Testing
Specimen Requirements
Collection

Collect samples into 5 numbered 2.0 mL microcentrifuge tubes (or similar): Tube 1: 0.5 mL, Tube 2: 1.0 mL, Tube 3: 1.0 mL, Tube 4: 1.0 mL, Tube 5: 1.0 mL OR collect entire sample into a single sterile tube, which is considered a pooled CSF sample. Freeze.

Normal Volume
4.5 mL CSF
Additional Information

Test sent to MNG Laboratories.

Billing
CPT Code
82542
Fee Code
AA309
NY State Approved
No