5-Methyltetrahydrofolate (CSF)

Test Code

10374

CPT Codes
82542<br>Limited Access Code

Preferred Specimen

1 mL CSF collected in a sterile screw-cap vial

Minimum Volume

0.5 mL

Instructions

Collect entire sample into a single sterile tube

Storage instructions: Freeze as soon as possible after collection

Transport Temperature

Frozen

Specimen Stability

Room temperature: Not stable
Refrigerated: 24 hours
Frozen -20° C: 72 hours
Frozen -80° C: Indefinitely

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Received thawed • Bloody CSF

Methodology
HPLC / Electrochemistry

FDA Status
This test was developed and its performance characteristics determined by Medical Neurogenetics, LCC. It has not been cleared or approved by the U.S. FDA.

Setup Schedule

Set up: Varies; Report available: 10-14 days

Reference Range

See Laboratory Report

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.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.