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

CPT: 82542, 83497, 83150
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Specimen Requirements


Specimen

Cerebrospinal Fluid (CSF)


Volume

0.5 mL


Minimum Volume

0.25 mL


Container

Sterile screw capped vial


Collection

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


Storage Instructions

Freeze as soon as possible after collection


Stability Requirements

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


Causes for Rejection

Bloody CSF; Received thawed


Test Details


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). 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.


Limitations

Qualitative results only if received in pooled sample


Methodology

HPLC/Electrochemistry


Recommended MNG Kits

CSF Collection Tubes (set of 5 tubes per kit)


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620011 Neurotransmitter Metabolites 620006 Neurotrans Met Panel Result N/A
620011 Neurotransmitter Metabolites 620004 Neopterin Result 34146-1
620011 Neurotransmitter Metabolites 620000 5-MTHF Result 47547-5
620011 Neurotransmitter Metabolites 620007 Neurotrans Met Panel Int N/A
620011 Neurotransmitter Metabolites 630812 PDF 80563-0