Von Willebrand disease (VWD) is an autosomal inherited bleeding disorder in which a person is deficient, qualitatively and/or quantitatively, in an essential enzyme for the coagulation pathway, von Willebrand factor (VWF). Like many coagulation disorders, the disease is commonly classified into three subtypes that include varying degrees of severity. More specifically, type 1 is classified as a partial quantitative deficiency in the VWF, type 2 as a qualitative deficiency, and type 3 as a total deficiency. As to be expected, the importance of proper diagnosis and treatment of VWD in a clinical setting, either for surgical precautions or general care, is paramount. Hence the importance of many studies that have recently shown promise in the world of genetic and molecular testing. In the context of VWD, technology is becoming more universal and integrated in the world of diagnostics. This study aims to compare the available technology-based VWD genetic screening modalities to determine a viable methodology for an accurate diagnosis of VWD.
Gutches, Theodore, "Von Willebrand Disease: The Viability of a Technology-Based Diagnostic Modality" (2019). Spring Showcase for Research and Creative Inquiry. 47.