Lysosomal Disorders Screen Test

Gaucher’s disease is a rare, autosomal recessive genetic disorder in which a deficient enzyme causes fatty substances to accumulate in the spleen, liver, bone marrow, and lungs. While there is no cure, lifelong treatments like Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT) allow most patients to live normal lifespans. This test can assist in detect it's current status.