What is the role of genetic testing in the diagnosis of von Willebrand disease (vWD)?

Updated: Dec 30, 2019
  • Author: Eleanor S Pollak, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Genetic analysis can aid diagnosis of vWD type. Newer techniques, such as next-generation sequencing, have the capacity to analyze several genes simultaneously when necessary and to identify exon deletions and duplications, which makes it possible to identify causative vWF defects in more patients than previously. Examples include discrimination of possible type 2N vWD from mild hemophilia A, discrimination of type 2B vWD from platelet-type vWD, and prenatal diagnosis of type 3 vWD. [21]


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