Oxysterol
First line test for the investigation and diagnosis of Niemann-Pick C (NP-C). The specific oxysterol metabolite measured is cholestane-3ß, 5a, 6ß-triol. Interpretation and any suggestions for further testing or follow up will be given with the report.
| Tube | 04 (EP) - EDTA Plasma |
|---|---|
| ID | Tests&Tubes0225 |
| Turn Around | Turnaround time stated by the Willink lab: 4 weeks. |
| Send to | Blood Sciences LGI (Test referred to: the Willink laboratory, Manchester) |
| Contact | For further details please contact Leeds Pathology customer services: leedsth-tr.pathologycustomerservice@nhs.net. |
| Collection Con | Minimum Volume: 0.5ml. Collect EDTA sample 12h post-dose. PROTECT FROM LIGHT. Instructions to lab: Centrifuge, separate plasma and store in fridge. EDTA plasma, lithium heparin plasma or serum (no gel) are acceptable. Gel tubes can not be used. Should be separated within 7h of collection. When booking in, please note whether sample was protected from light in specimen comment. |
| Sample REQ | Blood |
| Ref. Range Notes | Normal: 8.1-37.7 ng/ml (95% CI 9.6-37.0). NPC1: 35.3-1170 ng/ml (95% CI 39.3-811.9) |
| Units | ng/mL |
| Telepath | No telepath code. Book in as PROB1L (comment NRSOT) + SA1R |
