Neal J. Weinreb, MD, University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA, Coral Springs, Florida, discusses the roles of pathologists, geneticists, and hematologists in the diagnosis of Gaucher disease.

Pathologists are important in the process of diagnosing Gaucher disease because they have to correctly interpret a patient’s bone marrow samples. The geneticist tends to be more involved with the diagnosis of children. As a result they have more questions directed to them by families that have issues related to screening. Hematologists more commonly diagnose adult patients than geneticists.