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.
| Tube | Plain Universal |
|---|---|
| ID | 29921 |
| Availability | Weekdays |
| Additional Information | Please note a paired plasma sample is required for the diagnosis of NKH. |
| Turn Around | 10 days. Please contact the Biochemical Genetics laboratory for enquiries regarding urgent samples (0113 2064256). |
| Send to | Specialist Laboratory Medicine Block 46 St James hospital Beckett Street Leeds LS9 7TF |
| Advice | http://www.bimdg.org.uk/guidelines/guidelines-start.asp |
| Collection Con | 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. |
| Frequency | Daily |
| Sample REQ | 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. |
| Units | µmol/L |
| Telepath | Non-ketotic hyperglycinaemia: NKHG1J, CSF serine: SERC1J |
| ICE Codes | CSF amino acids: JNKHG |
