Von Willebrand Disease Precision Panel – 8 genes

Overview

• 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.  

Indication

• The Igenomix Von Willebrand Disease Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
  • Easy bruising 
  • Nosebleeds 
  • Gingival bleeding 
  • Severe hemorrhage 
  • Menorrhagia 
  • Jaundice 
  • Splenomegaly 
  • Hematomas 
  • Petechiae  
  • Ecchymosis  

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of treatment with a multidisciplinary team in the form of medical treatment with desmopressin, recombinant therapy and prevention of events that potentially increase risk of bleeding. 
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance 

** HGMD: Number of clinically relevant mutations according to HGMD