Test Details
Methodology
High-pressure liquid chromatography (HPLC)
Result Turnaround Time
10 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Use
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 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.
Limitations
Qualitative results if received in pooled sample.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen Requirements
Specimen
Cerebrospinal fluid (CSF)
Volume
0.5 mL
Minimum Volume
0.25 mL
Container
Sterile screw capped vial
Collection Instructions
Collect from first drops of lumbar puncture into single sterile tube. Do not aliquot from a pooled sample.
Stability Requirements
Temperature | Period |
|---|---|
Room temperature | Unstable (stability provided by manufacturer or literature reference) |
Refrigerated | 24 hours (stability provided by manufacturer or literature reference) |
Frozen | -20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference) |
Storage Instructions
Freeze as soon as possible.
Causes for Rejection
Bloody CSF; received thawed