Neurotransmitter Metab (CSF)

18 days

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Accredited Laboratory Partner

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This test measures key monoamine metabolites in cerebrospinal fluid (CSF), including 5-hydroxyindoleacetic acid (5-HIAA), homovanillic acid (HVA), and 3-O-methyl-DOPA (3-OMD). It is used to support the diagnosis of disorders affecting dopamine and serotonin metabolism in the brain, particularly in pediatric patients. Abnormal levels of these metabolites can indicate disruptions in neurotransmitter pathways. Such disruptions may result from: - Inherited metabolic disorders, including deficiencies of enzymes such as tyrosine hydroxylase, aromatic L-amino acid decarboxylase, monoamine oxidase, dopamine beta- hydroxylase, and the dopamine transporter - Defects in tetrahydrobiopterin metabolism, which also affect dopamine and serotonin production - Medication effects or other external factors These conditions can lead to significant imbalances in neurotransmitter systems, reflected by altered metabolite concentrations in CSF. Clinical presentations vary widely and may include developmental delay, intellectual disability, behavioral abnormalities, movement disorders (e.g., dystonia, athetosis), seizures, encephalopathy, ptosis This analysis may also assist in evaluating variants of uncertain significance (VUS) identified through genetic testing methods such as next-generation sequencing.

Cerebrospinal fluid (CSF) from a lumbar puncture (LP)

0.5 mL

LabCorp 5-Tube CSF Collection Kit (recommended)

Pre-Procedure Requirements for diagnostic purpose: Before lumbar puncture, patients should avoid medications that affect neurotransmitter turnover. These include: - Serotonin and dopamine reuptake inhibitors- - Monoamine oxidase (MAO) inhibitors - Catecho

Sample Collection and Handling Instructions Single-Tube Collection (if no additional testing is ordered): Collect from first drops of lumbar puncture into single sterile tube. Do not aliquot from a pooled sample. IMPORTANT: Collect the sample from a standard LP using the LabCorp 5- Tube CSF Collection Kit (PS# 125218). Each kit contains five microcentrifuge tubes. CSF Collection Protocol Collect CSF starting from the first drop directly into the first tube. Do not aliquot from a pooled sample. Fill tubes in numerical order, to the volume listed below: - Tube 1: 0.5 mL - Tube 2: 1.0 mL - Tube 3: 1.0 mL (contains antioxidants to preserve sample integrity) - Tube 4: 1.0 mL - Tube 5: 1.0 mL Handling after collection: - If no blood contamination: --> Place tubes on dry ice immediately at bedside. - If blood contamination is present: --> Centrifuge immediately (before freezing) --> Transfer clear CSF to new, correspondingly labeled tube --> Then place the tube on dry ice immediately. Label tubes with patient name and ID number, leaving the tube number viewable. Complete LabCorp Neurochemistry request form. Include test required, sample date and date of birth.