Gaucher Disease, Type 3 (GBA) Targeted Testing

Short Name: GBA Targeted

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. Gaucher disease type III (GD3) is the subacute form of neuronopathic gaucher disease with later onset and slower progression. It is caused by pathogenic variants in the GBA gene. The c.1226A>G (p.Asn409Ser) variant has been identified in the Amish and will be specifically analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 231000
MedGen: 78653