CSF 5-Methyltetrahydrofolate is useful for determining a deficiency of folate in the central nervous system. CSF 5-Methyltetrahydrofolate 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-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.
10 - 14 days
Soft Order Code
Medical Neurogenetics (MNG) NC01
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4.5 mL CSF
Test sent to MNG Laboratories.