Test Overview
Test Methodology

HPLC, Electrochemistry

Test Usage

CSF Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) is useful for diagnosis of certain disorders of neurotransmitter metabolism. This testing 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). Monoamine metabolite testing includes homovanillic acid (HVA), 3-O-methyl-Dopa (3-OMD), and 5-hydroxyindole acetic acid (5-HIAA). This test is useful in diagnosing pediatric neurotransmitter diseases affecting dopamine and serotonin metabolism in the brain. Inborn errors of metabolism and various drugs may lead to severe imbalances and disturbances in these neurotransmitter systems that are reflected by changes in the concentration of monoamines metabolites in CSF. Primary inherited defects involve deficiencies in tyrosine and tryptophan hydroxylase, aromatic amino acid decarboxylase, monoamine oxidase, dopamine beta hydroxylase and the dopamine transwporter. Other defects in the biopterin synthesis pathway may also affect dopamine and serotonin metabolism. These disorders are characterized by a wide range of symptoms that may include developmental delay, mental disability, behavioral disturbances, dystonia, seizures, encephalopathy, athetosis and ptosis.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Analytic Time

10 - 14 days

Soft Order Code
NTM
MiChart Code
Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)
Laboratory
Sendout
Reference Laboratory
Medical Neurogenetics (MNG) NC04
Section
Special Testing
Specimen Requirements
Collection

Collect samples into 5 numbered 2.0 mL microcentrifuge tubes (or similar): Tube 1: 0.5 mL, Tube 2: 1.0 mL, Tube 3: 1.0 mL, Tube 4: 1.0 mL, Tube 5: 1.0 mL OR collect entire sample into a single sterile tube, which is considered a pooled CSF sample. Freeze.

Special Handling

Collection kit preferred (provided by Medical Neurogenetics) or Sterile tube or container.

Red Top Tube
Normal Volume
4.5 mL CSF
Additional Information

Test sent to MNG Laboratories.

Billing
CPT Code
82542, 83497, 83150
Fee Code
AA317, AA318, AA319
Resources