Diagnosis of Gaucher disease Genetics Test Information Provides
information that may help with selection of the correct test or
proper submission of the test request Preferred specimen for
diagnostic testing. Not recommended for carrier detection;
instead order GAUW/81235 Gaucher Disease, Mutation Analysis,
GBA. Clinical Information Discusses physiology, pathophysiology,
and general clinical aspects, as they relate to a laboratory
test Gaucher disease is an autosomal recessive lysosomal storage
disorder caused by reduced or absent acid beta-glucosidase
(glucocerebrosidase) enzyme activity. Absent or reduced activity
of this enzyme results in accumulation of undigested materials
(primarily in the lysosomes) and interferes with the normal
functioning of cells. Clinical features and severity of symptoms
are widely variable within Gaucher disease, but in general, the
disorder is characterized by bone disease, hepatosplenomegaly,
and may have central nervous system (CNS) involvement. There are
3 clinical subtypes