title: The value of genetic testing for type 2B Von Willebrand disease.
abstract: Von Willebrand disease (VWD) is an inherited bleeding disorder that may be associated with significant morbidity, but is often a diagnostic challenge. While an appropriate clinical bleeding history suggests the condition, current laboratory screening investigations lack the sensitivity and specificity to confirm the diagnosis in many cases. Recently, much work has gone into characterizing the genetic mutations associated with the various subtypes of VWD. We report a case in which the diagnosis of VWD type 2B was made via genetic testing, illustrating its value as a useful diagnostic tool.
authors.affiliation: Department of Pathology and Laboratory Medicine, Queen's University, Kingston, ON, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Roland
authors.forename: D
authors.initials: D
authors.lastname: Rapson
authors.forename: D
authors.initials: D
authors.lastname: Lillicrap
authors.forename: P
authors.initials: P
authors.lastname: James
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014842:von Willebrand Diseases / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor