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

Test Details
TAT (TURNAROUND TIME) 10 - 14 days
CPT CODE 82542, 83497, 83150
PRICE $200
  • CSF Collection Tubes (set of 5 tubes per kit)

Order Kit

Clinical Information
Clinical Significance CSF Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (NC04) 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). CLINICAL 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.
Relevant Diseases
  • Aromatic L-Amino Acid Decarboxylase Deficiency
  • Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
  • Parkinsonism-Dystonia, infantile
  • BH4-Deficient Hyperphenylalaninemia C
  • Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency
  • BH4-Deficient Hyperphenylalaninemia A
  • BH4-Deficient Hyperphenylalaninemia B
  • Dopa-Responsive Dystonia

Specimen Information
Acceptable Sample Types
  • Cerebrospinal Fluid (CSF)
Sample Preparation: With an MNG CSF Collection Kit: Fill the tubes sequentially to the marked line Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter Without MNG CSF Collection Kit: Collect samples into 5 numbered 2.0 mL microcentrifuge tubes (or similar): Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter OR Collect first 0.5 milliliter of sample into a single sterile tube labeled Tube 1, and collect the additional sample into a separate sterile tube which is considered a pooled CSF sample. Neurotransmitter analysis may only be informative for certain disorders (NC04 analysis) if ordered with only a pooled sample submitted. Please contact the laboratory for more information.
Shipping Condition: Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.

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