PPCS has replaced plasma oxysterol for the laboratory diagnosis of Niemann-Pick disease type C, due to improved clinical specificity and sensitivity. If PPCS is elevated, analysis will include lyso-sphingomyelin to differentiate from ASMD (NPA/B) and total hexosyl-sphingosine to differentiate from Gaucher disease. Plasma oxysterol is still available for monitoring of of ERT / HSCT in patients with Lysosomal Acid Lipase Deficiency (LALD).
Tube
03 (EB) – EDTA Blood
Turn Around
Turnaround time stated by the Willink laboratory: 4 weeks
Send to
Blood Sciences, LGI. Sendaway test to the Willink lab in Manchester.
Collection Con
Minimum volume 1 mL EDTA whole blood. Instructions to lab: do not centrifuge. Pass to sendaways team.
Sample Req
Blood
Ref. Range Notes
Palmitoyl-phosphocholineserine 1 – 200 ng/mL
Lyso-sphingomyelin < 50 nmol/L
Total hexosyl-sphingosine < 10 nmol/L