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NeuroSURE® Metabolites: 5-Methyltetrahydrofolate (CSF)

Order Code
620008
CPT
82542
Test Details
TAT

18 days

Methodology

High-pressure liquid chromatography (HPLC)

Remarks

Storage Instructions
Freeze as soon as possible after collection.

Causes for Rejection
Bloody CSF; received thawed

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

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). 5-Methyltetrahydrofolate (5-MTFH) 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.

Specimen Type

Cerebrospinal fluid (CSF)

Volume

1.0 mL

Specimen Container

Sterile screw capped vial

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

Collect entire sample into a single sterile tube.

Specimen Stability
Temperature Period
Frozen -20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference)
Order Code
620008
CPT
82542
Test Details
TAT

18 days

Methodology

High-pressure liquid chromatography (HPLC)

Remarks

Storage Instructions
Freeze as soon as possible after collection.

Causes for Rejection
Bloody CSF; received thawed

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

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). 5-Methyltetrahydrofolate (5-MTFH) 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.

Specimen Type

Cerebrospinal fluid (CSF)

Volume

1.0 mL

Specimen Container

Sterile screw capped vial

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

Collect entire sample into a single sterile tube.

Specimen Stability
Temperature Period
Frozen -20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference)