Diagnostic Services for Gaucher and Niemann-Pick disease plus Lysosomal acid lipase deficiency

A complete diagnostic program
From enzymatic to biomarker testing including genetic testing from the same Dried Blood Spot.

Gaucher Disease Diagnostics

Available enzymatic and biomarker tests:

Disease Enzyme Biomarker
Gaucher Acid ß-Glucosidase Lyso-GL-1
Niemann-Pick type A/B Acid sphingomyelinase Lyso-SPM
Wolman, LALD Lysosomal acid lipase

Available genetic tests:

Disease Gene
Gaucher GBA
Niemann-Pick type A/B SMPD1
Gaucher and related disorders SMPD1, NPC1, NPC2, PSAP
Wolman LIPA