Von Willebrand Disease Precision Panel
Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a heterogeneous clinical presentation and genetic background.

Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a heterogeneous clinical presentation and genetic background. The main feature relies on a deficiency or dysfunction of the protein named von Willebrand factor (vWF) resulting in an impaired primary homeostasis where platelets play a crucial role. Von Willebrand factor serves as a mediator for platelet adhesion during vascular injury and a reservoir and stabilizer for protein factor VIII, the absence of this protein causes a qualitative platelet disorder. Significant variability exists among family members that suffer from this disease depending on the amount on functioning circulating von Willebrand factor.
The Igenomix Von Willebrand Disease Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of recurrent bleeding ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
F8 | Hemophilia A | X,XR,G | 99.89 | – |
GP1BA | Bernard-Soulier | AD,AR | 99.98 | 73 of 73 |
GP1BB | Bernard-Soulier | AR | 74.08 | 26 of 50 |
GP9 | Bernard-Soulier | AR | 99.96 | 41 of 41 |
ITGA2B | Glanzmann Thrombasthenia, | AD,AR | 100 | 237 of 239 |
ITGB3 | Glanzmann Thrombasthenia, | AD,AR | 99.44 | 178 of 179 |
NBEAL2 | Gray Platelet | AR | 99.74 | 51 of 51 |
VWF | Von Willebrand | AD,AR | 98 | 933 of 1001 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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