5-Methyltetrahydrofolate (CSF)


Test Details
TEST CODE NC01
TEST METHODOLOGY HPLC/Electrochemistry
TAT (TURNAROUND TIME) 10 - 14 days
CPT CODE 82542
PRICE $190
RECOMMENDED MNG KITS
  • CSF Collection Tubes (set of 5 tubes per kit)

Order Kit


Clinical Information
Clinical Significance 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). 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.
Relevant Diseases
  • Neurodegeneration due to Cerebral Folate Transport Deficiency
  • Cerebral Folate Deficiency

Specimen Information
Acceptable Sample Types
  • Cerebrospinal Fluid (CSF)
Sample Preparation: Fill the tubes sequentially to the marked line Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter Without MNG CSF Collection Kit: Collect samples into 5 numbered 2.0 mL microcentrifuge tubes (or similar): Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter OR Collect entire sample into a single sterile tube, which is considered a pooled CSF sample. Neurotransmitter analysis may only be informative for certain disorders (NC04 analysis). Please contact the laboratory for more information.
Shipping Condition: Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.


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