Gaucher Disease Carrier Testing

This blood test will detect carriers of Gaucher disease in the Ashkenazi Jewish population. Enzyme testing is the preferred test to detect affected individuals. DNA testing may be used to confirm affected status.

Gaucher disease is an autosomal recessive disorder caused by a decrease in the levels of the enzyme glucocerebrosidase. Decreased levels of glucocerebrosidase can result in visceral changes, such as enlarged organs, low blood platelet count, and skeletal changes, such as bone lesions.

There are three subtypes of Gaucher disease. Type 1 is the most common subtype. Individuals affected with type 1 may have onset of symptoms in adolescence, though some remain asymptomatic well into adulthood. Type 1 is effectively treated through enzyme replacement therapy.