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Test ID: FNEU    
Neurotransmitter Metabolites/Amines

Available on the App Store

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Age           5HIAA              HVA             3-O-MD

(years)      (nmol/L)           (nmol/L)        (nmol/L)

 

0-0.2        208-1159           337-1299         <300

0.2-0.5      179-711            450-1132         <300

0.5-2.0      129-520            294-1115         <300

2.0-5.0       74-345             233-928          <150

5.0-10        66-338             218-852          <100

10-15         67-189             167-563          <100

Adults        67-140             145-324          <100

 

Interpretation performed by Keith Hyland, Ph.D.

       

Note: If test results are inconsistent with the clinical presentation, please call our laboratory to discuss the case and/or submit a second sample for confirmatory testing.

       

DISCLAIMER required by the FDA for high complexity clinical laboratories: HPLC testing was developed and its performance

characteristics determined by Medical Neurogenetics. These HPLC tests have not been cleared or approved by the U.S. FDA.

       

Test Performed By:       Medical Neurogenetics Lab

5424 Glenridge Drive NE

Atlanta, GA  30342

Interpretation Provides information to assist in interpretation of the test results

Recently, a cerebral folate deficiency syndrome has been described.  The clinical picture is one of developmental delay/regression, cerebellar ataxia, with or without seizures, with or without autism. This disorder is treatable with folinic acid.  If your patient fits the clinical picture we can measure 5-methyltetrahydrofolate in the CSF we already have if you wish to add on this test.  Please see: Ramaekers VT, Blau N. Cerebral folate deficiency, Dev Med Child Neurol. 2004 Dec;46(12):843-51. Cerebral folate deficiency has also been described in mitochondrial disorders.

     

We now have biomarkers for folinic acid/pyridoxine responsive seizures (Antiquitin, ALDH7A1) that appear on our neurotransmitter metabolite chromatogram.