NeuroSURE® Metabolites: 5-Methyltetrahydrofolate (CSF)

CPT: 82542

Expected Turnaround Time

10 - 14 days


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

Temperature

Period

Room temperature

Unstable (stability provided by manufacturer or literature reference)

Refrigerated

24 hours (stability provided by manufacturer or literature reference)

Frozen

-20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference)


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). 5-Methyltetrahydrofolate (5-MTFH) 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.


Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

High-pressure liquid chromatography (HPLC)


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