Gaucher disease, the most common inherited lysosomal storage disorder, is caused by genetic variants in the GBA gene leading to glucocerebrosidase deficiency. The Gaucher Disease StripAssay^® identifies the most frequent mutations and recombinant alleles.

Gaucher disease

• Gaucher disease is a rare genetic autosomal recessive disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase (GBA) and accumulation of glucosylceramide and other glycolipids. The disease is classically divided in three main forms (types 1, 2 and 3) and two other subtypes (perinatal-lethal and cardiovascular).
• Considering the clinical context and other testing parameters available to the physician, genetic testing for GBA variants is an important aid in the clinical diagnosis of the patient.
• Treatment options for some forms of this disease include enzyme replacement therapy.