Specimen Collection
0.5 mL CSF. Send on ice to the laboratory immediately.
The CSF must not be blood stained. A brief clinical history is essential.
Reference Intervals
The reference interval will be provided with the result.
Uncertainty of measurement: 7 - 11%
Turnaround Time: Between 5 days and 1 week, 3 days
Test is available urgently if required contact laboratory on x22016 or via LabLink
Assay Method
Waters Acquity Amino Acid Analyser.
Pre-column derivatisation with reverse phase separation
Diagnostic Use and Interpretation
These analyses are designed primarily for the investigation and monitoring of inherited disorders of amino acid metabolism, in conjunction with plasma amino acids. CSF glycine is the most frequently requested amino acid.
Patients with non-ketotic hyperglycinemia (NKH) generally have an elevated CSF glycine, and always have an elevated CSF glycine:plasma glycine ratio. The plasma and CSF samples should be collected at the same time. Urine amino acids are also useful for diagnosis of NKH and other amino acidurias.
Plasma amino acids
Urine amino acids screen
Contact Information
For further information contact laboratory: ext 22016 or via Lablink.
or, Dr Callum Wilson, Metabolic Physician: Ph 021 555 392
or, Dr Emma Glamuzina, Metabolic Physician: Ph 021 403 617
Specimen Transport Instructions for Referring Laboratories
If CSF is clear, freeze specimen immediately.
If CSF blood-stained, centrifuge immediately and freeze supernatant. Please note on the request form that it was blood-stained.
Send frozen to LabPlus (-70oC if possible).