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NeuroSURE® Metabolites: Neurotransmitter Metabolites (5 HIAA, HVA, 30MD) (CSF)

Order Code
620011
CPT
82131; 82542; 83150; 83497
Test Details
TAT

18 days

Methodology

High-pressure liquid chromatography (HPLC)

Remarks

Storage Instructions
Freeze as soon as possible.

Causes for Rejection
Bloody CSF; received thawed

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

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. 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.

Specimen Type

Cerebrospinal fluid (CSF)

Volume

0.5 mL

Specimen Container

Sterile screw capped vial

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

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

Specimen Stability
Temperature Period
Frozen -20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference)
Order Code
620011
CPT
82131; 82542; 83150; 83497
Test Details
TAT

18 days

Methodology

High-pressure liquid chromatography (HPLC)

Remarks

Storage Instructions
Freeze as soon as possible.

Causes for Rejection
Bloody CSF; received thawed

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

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. 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.

Specimen Type

Cerebrospinal fluid (CSF)

Volume

0.5 mL

Specimen Container

Sterile screw capped vial

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

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

Specimen Stability
Temperature Period
Frozen -20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference)