Use

The Invitae Gaucher Common Variants Test offers detection of the 19 most common GBA variants associated with Gaucher disease. Gaucher disease is a clinically heterogeneous, multi-systemic, autosomal recessive lysosomal storage disorder caused by beta-glucocerebrosidase enzyme deficiency. This test helps confirm a diagnosis, guides treatment and management decisions, and provides genetic counseling. Identification of disease-causing variants aids in the risk assessment and carrier status determination for at-risk relatives.