Palmitoyl phosphocholineserine (PPCS)
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 |
| Telepath | Book in as PROB1L + code NRSOT and SA1R |
| ICE Codes | Not yet available to request through ICE. Please send a handwritten request form to the lab with the sample. |
