i=rvjrsj/\/\3 ESTABLISHED INNOVATIONS IN DIAGNOSTICS Gaucher Disease StripAssayThe easy way to test for Gaucher Disease using established innovations in diagnostics Gaucher Disease Assay. Key to efficient therapy. Gaucher Disease is the most common inherited lysosomal storage disorder. The disease is caused by glucocerebrosidase deficiency due to mutations in the glucocerebrosidase (GBA) gene. Impaired enzyme activity results in a heterogeneous range of clinical manifestations, including enlarged spleen and liver, anemia, thrombocytopenia, bone lesions, bone marrow suppression, hyperpigmentation and neurologic complications. Enzyme replacement therapy may offer clinical amelioration and an improved quality of life. Glucocerebrosidase deficiency leads to accumulation of glycolipids within the reticulo-endothelial system. The resulting condition, Gaucher Disease, is recessively inherited and caused by mutations in the GBA gene. Most of these are point mutations, but some common ones are due to genetic rearrangement between the GBA gene and the highly homologous pseudogene. ViennaLab's Gaucher Disease StripAssay® offers an easy way to identify the most frequent mutations and recombinant alleles in the GBA gene.

i=rvjrsj/\/\3 ESTABLISHED INNOVATIONS IN DIAGNOSTICS The ViennaLab Gaucher Disease StripAssay® meets customer requirements Requirement ViennaLab’s offer Easy Three simple steps. 6 h. Done. Reliable Probes for variants and controls combined on one teststrip. Versatile Automated or manual processing. Incubator. Thermocycler. Shaker. That is all you need. Software for interpretation of results is optional. ViennaLab's Gaucher Disease StripAssay® • is based on reverse-hybridization of biotinylated PCR products • combines probes for variants and controls in a parallel array of allele-specific oligonucleotides...