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

Cerebrospinal Fluid (CSF)

0.5 mL

0.25 mL

Sterile screw capped vial

Collect from first drops of lumbar puncture into single sterile tube. Do not aliquot from a pooled sample.

Freeze as soon as possible after collection

Room Temperature: Not stable; Refrigerated: 24 hours; Frozen: 72 hours @ -20C, Indefinitely @ -80C; Freeze/Thaw: None

Bloody CSF; Received thawed

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).

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 transporter. Other defects affecting tetrahydrobiopterin metabolism 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.

Qualitative results only if received in pooled sample

HPLC/Electrochemistry

CSF Collection Tubes (set of 5 tubes per kit)