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.
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.