Test Details
Methodology
High-pressure liquid chromatography (HPLC)
Result Turnaround Time
10 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
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.
Specimen Requirements
Specimen
Cerebrospinal fluid (CSF)
Volume
1.0 mL
Minimum Volume
0.5 mL
Container
Sterile screw capped vial
Collection Instructions
Collect entire sample into a single sterile tube.
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) |
Storage Instructions
Freeze as soon as possible after collection.
Causes for Rejection
Bloody CSF; received thawed