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Genomics Precision Diagnostic > Hematology Precision Panel > Von Willebrand Disease Precision Panel

Von Willebrand Disease Precision Panel

Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a heterogeneous clinical presentation and genetic background.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

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

Methodology

References

See scientific referrals

Veyradier, A., Boisseau, P., Fressinaud, E., Caron, C., Ternisien, C., & Giraud, M. et al. (2016). A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease. Medicine, 95(11), e3038. doi: 10.1097/md.0000000000003038 

Sharma, R., & Flood, V. H. (2017). Advances in the diagnosis and treatment of Von Willebrand disease. Blood, 130(22), 2386–2391. https://doi.org/10.1182/blood-2017-05-782029 

Ng, C. J., & Di Paola, J. (2018). von Willebrand Disease: Diagnostic Strategies and Treatment Options. Pediatric clinics of North America, 65(3), 527–541. https://doi.org/10.1016/j.pcl.2018.02.004 

Swami, A., & Kaur, V. (2017). von Willebrand Disease: A Concise Review and Update for the Practicing Physician. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, 23(8), 900–910. https://doi.org/10.1177/1076029616675969 

Nichols, W. L., Hultin, M. B., James, A. H., Manco-Johnson, M. J., Montgomery, R. R., Ortel, T. L., Rick, M. E., Sadler, J. E., Weinstein, M., & Yawn, B. P. (2008). von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia : the official journal of the World Federation of Hemophilia, 14(2), 171–232. https://doi.org/10.1111/j.1365-2516.2007.01643.x 

Goodeve, A. (2016). Diagnosing von Willebrand disease: genetic analysis. Hematology, 2016(1), 678-682. doi: 10.1182/asheducation-2016.1.678 

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      • Newborn Screening
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      • ALICE
      • EMMA
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      • EndomeTRIO
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