Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)
Use
CSF Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) is useful for diagnosing certain disorders of neurotransmitter metabolism. This testing can assess Variants of Uncertain Significance identified during genetic testing, like Next Generation Sequencing or Capillary Sequencing Testing. It aids in diagnosing pediatric neurotransmitter diseases affecting dopamine and serotonin metabolism in the brain. Inborn errors of metabolism and various drugs may cause imbalances in neurotransmitter systems, shown by changes in monoamines metabolites concentration in CSF. Primary inherited defects involve enzymes like tyrosine hydroxylase, tryptophan hydroxylase, and others affecting dopamine and serotonin metabolism.
Special Instructions
Not provided.
Limitations
This test specifically targets only certain known metabolic pathways disorders and may not detect all variability associated with neurotransmitter diseases. If results do not match the clinical presentation, consider re-testing with a second sample for confirmation.
New York Approved
Methodology
Mass Spectrometry (HPLC-Electrochemistry)
Biomarkers
3-O-methyldopa
Analyte5-hydroxyindoleacetic acid
AnalyteHomovanillic acid
Analyte
LOINC Codes
- 47544-2 - 5OH-indoleacetate CSF-sCnc
- 40846-8 - HVA CSF-sCnc
- 34596-7 - 3-o-methyldopa CSF-sCnc
- 59462-2 - Clinical biochemist review
Result Turnaround Time
10-18 days
Related Documents
For more information, please review the documents below
Specimen
Cerebrospinal Fluid
Volume
Not provided
Minimum Volume
4.5 mL
Container
Medical Neurogenetics collection kit (MCL Supply T657) required. Each collection kit contains 5 microcentrifuge tubes.
Collection Instructions
CSF should be collected from the first drop into the tubes in the numbered order. Fill each tube to the marked line with the required volumes. If the sample is not blood contaminated, place tubes on dry ice at bedside. If blood contaminated, centrifuge and transfer clear CSF to new tubes before freezing. Store at -80 until shipment on dry ice.
Storage Instructions
Store samples at -80 until shipment.
Causes for Rejection
Specimens other than CSF in special collection kit (MCL supply T657)
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | Frozen (CSF KIT) |