Description: 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).

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 transporter. Other defects in the biopterin synthesis pathway may also affect dopamine and serotonin metabolism. 

Test Indications: developmental delay, mental disability, behavioral disturbances, dystonia, seizures, encephalopathy, athetosis and ptosis

Test Approval Requirements:  F260-11-02 Biochemistry Approval for Test Referral Form

Recommendations: Fill out MNG Laboratories, Attach to Biochemistry Requisition. MNG Requisition

Required Fields: Physician Name, Signature, Test Code(s)

Interpretation performed by Referred Lab. Neurotransmitter Metabolites (NC04)

Method of Analysis: HPLC-Electrochemistry