Gaucher

Gaucher disease is a lysosomal storage disorder caused by a pathogenic variant in the gene responsible for producing the enzyme acid β-glucosidase. More than 300 alleles carrying pathogenic variants have already been identified.¹

Gaucher disease is rare and has signs and symptoms that can be confused with those of many other diseases. However, some tests allow the definitive diagnosis of the disease.

accelRare^® is a pre-diagnosis and differential diagnosis tool. Developed, tested and validated in collaboration with 67 European rare disease specialists across multiple disciplines.