Lysosphingolipids

Description / Indication

Screening test for sphingolipidoses. The following metabolites are measured: lysosfingomyelin (Niemann-Pick type A en B), lysosfingomyelin-509 (Niemann-Pick type C), lysoceramidetrihexoside (Fabry disease) lysoglucosylceramide (Gaucher disease) and lysogalactosylceramide (Krabbe disease).

Method

UPLC-MS/MS

TAT

4 weeks

Price

€ 216

Test request form Metabolite diagnostics

Test request form Metabolite diagnostics.pdf
1.686 Kb
V6

Materials:

Plasma

  • Amount: 500 µl.
  • Conditions: Dry ice.
  • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.