Patent ID: 9250249
Filing Date: 2016-02-02
CPC Classification: G01N

Claim Text:
1. A method of detecting the presence of a lysosomal storage disease in a subject comprising the steps of: (a) obtaining a sample containing cells from said subject; (b) contacting said sample with a cationic amphiphilic tracer compound that localizes to a vacuole in a cell selected from (c) detecting said cationic amphiphilic tracer compound, thereby determining whether there exists an excess above normal accumulation of vacuoles within said cells of the sample, said excess above normal accumulation of vacuoles being indicative of the lysosomal storage disease, wherein the lysosomal storage disease is selected from Fabry disease and Niemann-Pick disease, and wherein said cells in step (a) are selected from lymphocytes, granulocytes, macrophages, monocytes, or a combination thereof.