|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Neurotransmitter Metabolites
Test Code900788
CPT Codes
⁠⁠⁠⁠⁠⁠⁠82542<br>Restricted Client Code
Preferred Specimen
0.5 mL cerebrospinal fluid collected in a sterile screw-cap vial
Minimum Volume
0.25 mL
Instructions
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.
Transport Temperature
Frozen
Specimen Stability
Room temperature: Not stable
Refrigerated: 24 hours
Frozen -20°C: 72 hours
Frozen -80° C: Indefinitely
Refrigerated: 24 hours
Frozen -20°C: 72 hours
Frozen -80° C: Indefinitely
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Bloody CSF • Received thawed
Methodology
HPLC / Electrochemistry
Setup Schedule
Set up: As needed; Report available: 10-14 days
Reference Range
See Laboratory Report
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.
