5 - Methyltetrahydrofolate
Medical Neurogenetics collection kit (T657) required.
Each collection kit contains 5 microcentrifuge tubes.
1) CSF should be collected from the first drop into the tubes in the numbered order. Fill each tube to the marked line with the required volumes
Tube 1: 0.5 mL
Tube 2: 1.0 mL
Tube 3: 1.0 mL (contains antioxidants necessary to protect the sample integrity)
Tube 4: 1.0 mL
Tube 5: 1.0 mL
- If sample's not blood contaminated, the tubes should be placed on dry ice at bedside
- If sample's are blood contaminated, the tubes should immediately be centrifuged (prior to freezing) and the clear CSF transferred to new similarly labeled tubes, then frozen
- Store samples at -80 until they can be shipped
2) Complete Medical Neurogenetics, LLC request form. Include test required, sample date and date of birth.
3) Label tubes with patient name and ID number, leaving the tube number viewable.
4) Place samples inside a specimen transport bag and the Medical Neurogenetics, LLC request form inside the pouch of the transport bag.
5) Ship samples frozen on dry ice.
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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.
Note: If test results are inconsistent with the clinical presentation, please call our laboratory to discuss the case and/or submit a second sample for confirmatory testing.
DISCLAIMER required by the FDA for high complexity clinical laboratories: HPLC testing was developed and its performance characteristics determined by Medical Neurogenetics. These HPLC tests have not been cleared or approved by the U.S. FDA.
Monday through Friday
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Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.