<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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 <italic>VWF</italic> 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.</p>
<p>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 <italic>VWF</italic> 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.</p>
</abstract>

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.

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

Department of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin

Comenius University in Bratislava, Martin University Hospital

Division of Oncology, Biomedical Center Martin, Jessenius Faculty of Medicine in Martin

Acta Medica Martiniana

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular...

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

Data publikacji: 09 maj 2019

Zakres stron: 5 - 11

Otrzymano: 12 gru 2018

Przyjęty: 01 mar 2019

DOI: https://doi.org/10.2478/acm-2019-0001

Słowa kluczowe
von Willebrand disease, von Willebrand factor, genetic testing, new generation sequencing, mutation

© 2019 Zolkova J et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Data publikacji: 09 maj 2019

Zakres stron: 5 - 11

Otrzymano: 12 gru 2018

Przyjęty: 01 mar 2019

DOI: https://doi.org/10.2478/acm-2019-0001

Słowa kluczowevon Willebrand disease, von Willebrand factor, genetic testing, new generation sequencing, mutation

© 2019 Zolkova J et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Słowa kluczowe
von Willebrand disease, von Willebrand factor, genetic testing, new generation sequencing, mutation