PPCS has replaced oxysterol as the first-line test for the investigation and diagnosis of Niemann-Pick C (NP-C). Plasma oxysterol is still available primarily for monitoring of ERT / HSCT in patients with Lysosomal Acid Lipase Deficiency (LALD). 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: [email protected].
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 to 37.7 ng/ml (95% CI 9.6 to 37.0). NPC1: 35.3 to 1170 ng/ml (95% CI 39.3 to 811.9)
Units
ng/mL