5-Methyltetrahydrofolate
Use
CSF 5-Methyltetrahydrofolate (NC01) is useful for determining a deficiency of folate in the central nervous system. It may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing. 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.
Special Instructions
Not provided.
Limitations
If test results are inconsistent with the clinical presentation, contact the laboratory to discuss or submit a second sample for confirmatory testing. DISCLAIMER: HPLC testing was developed and performance characteristics determined by Medical Neurogenetics. These HPLC tests have not been cleared or approved by the U.S. FDA.
New York Approved
Methodology
Other
Biomarkers
5-Methyltetrahydrofolate
Analyte
LOINC Codes
- 47547-5 - 5Me-tetrahydrofolate CSF-sCnc
- 47547-5 - 5Me-tetrahydrofolate CSF-sCnc
Result Turnaround Time
10-18 days
Related Documents
For more information, please review the documents below
Specimen
Cerebrospinal Fluid
Volume
Not provided
Minimum Volume
Not provided
Container
Medical Neurogenetics collection kit (T657) containing 5 microcentrifuge tubes
Collection Instructions
CSF should be collected from the first drop into the tubes in the numbered order. Fill each tube to the marked line: Tube 1: 0.5 mL, Tube 2: 1.0 mL, Tube 3: 1.0 mL (contains antioxidants necessary to protect sample integrity), Tube 4: 1.0 mL, Tube 5: 1.0 mL. If sample's not blood contaminated, tubes should be placed on dry ice at bedside. If sample's are blood contaminated, tubes should immediately be centrifuged and the clear CSF transferred to new tubes, then frozen. Store samples at -80 until they can be shipped.
Causes for Rejection
Hemolysis, Lipemia, Icteric