Use

Gaucher disease is a lysosomal storage disorder characterized by variable symptoms, including bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease. It is particularly prevalent in Ashkenazi Jewish populations, with three subtypes based on symptom severity and presence of central nervous system involvement in Types 2 and 3. This test is designed to detect eight specific pathogenic variants within the GBA gene, which have a high clinical sensitivity for identifying carriers or affected individuals within the Ashkenazi Jewish population.