The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease

Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this gene. Thanks to describing these mechanisms it is possible to understand the pathogenesis of the most common congenital bleeding disorder.

In the Slovak Republic genetic testing is still not a routine part of VWD diagnostics. The National Center of Hemostasis and Thrombosis in Martin is the first department in Slovakia which has begun genetic testing of patients with VWD. Sequencing of the VWF gene has many limitations which are referred in more details within this article. Therefore, we decided to use the methods of new generation sequencing in combination with Sanger sequencing. We believe that soon we will have the first results which will help us to identify the possible cause of VWD in these patients.