Special Instructions
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 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 | 80563-0 |