Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

Casandra

Casandra Test Code MC99346Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID FNEUCPT Codes 82542, 83150, 83497

Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

Clinical Use

Use

CSF Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) is useful for diagnosing certain disorders of neurotransmitter metabolism. This testing can assess Variants of Uncertain Significance identified during genetic testing, like Next Generation Sequencing or Capillary Sequencing Testing. It aids in diagnosing pediatric neurotransmitter diseases affecting dopamine and serotonin metabolism in the brain. Inborn errors of metabolism and various drugs may cause imbalances in neurotransmitter systems, shown by changes in monoamines metabolites concentration in CSF. Primary inherited defects involve enzymes like tyrosine hydroxylase, tryptophan hydroxylase, and others affecting dopamine and serotonin metabolism.

Special Instructions

Complete the Medical Neurogenetics, LLC request form, including required test, sample date, and date of birth. Label tubes with patient name and ID, keeping the tube number visible. Place samples inside a specimen transport bag with the form enclosed, and ship samples frozen on dry ice.

Limitations

This test specifically targets only certain known metabolic pathways disorders and may not detect all variability associated with neurotransmitter diseases. If results do not match the clinical presentation, consider re-testing with a second sample for confirmation.

Test Details

New York Approved

Methodology

Mass Spectrometry (HPLC-Electrochemistry)

Biomarkers

3-O-methyldopa

Analyte

3-O-methyldopa • Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)

5-hydroxyindoleacetic acid

Analyte

5-hydroxyindoleacetic acid • Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)

Homovanillic acid

Analyte

Homovanillic acid • Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)

LOINC Codes

Result Codes

47544-2
40846-8
34596-7
59462-2

Result Turnaround Time

10-18 days

Specimen

Cerebrospinal Fluid

Volume

Not provided

Minimum Volume

4.5 mL

Container

Medical Neurogenetics collection kit (MCL Supply T657) required. Each collection kit contains 5 microcentrifuge tubes.

Collection Instructions

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. If the sample is not blood contaminated, place tubes on dry ice at bedside. If blood contaminated, centrifuge and transfer clear CSF to new tubes before freezing. Store at -80 until shipment on dry ice.