Amino acids (CSF)
Most commonly requested for the investigation of seizures and other neurological problems e.g. CSF glycine for non-ketotic hyperglycinaemia (NKH) and CSF serine for serine deficiency disorders.
|Please note a paired plasma sample is required for the diagnosis of NKH.
|10 days. Please contact the Biochemical Genetics laboratory for enquiries regarding urgent samples (0113 2064256).
|Specialist Laboratory Medicine
St James hospital
|Minimum volume: 0.2 mL
Instructions for lab: Send to Block 46. If storage required (overnight or over the weekend) store refrigerated at 2-8ºC.
Please discuss with Biochemical Genetics lab prior to rejecting any samples.
|Clean tap, blood free CSF. If investigating NKH, a paired plasma sample is required to calculate the CSF/plasma glycine ratio.
|Ref. Range Notes
|Age related referenge range supplied on the report as appropriate. Contact Biochemical Genetics laboratory for further advice if required.
|Non-ketotic hyperglycinaemia: NKHG1J, CSF serine: SERC1J
|CSF amino acids: JNKHG