Von Willebrand Disease Type 2N (Normandy): VWF Exons 18-24 Sequencing

Diagnostic Use

Von Willebrand disease (VWD) arises from a qualitative or quantitative deficiency of Von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion. A Type 2N (Normandy) defect causes a deficiency of the binding of VWF to factor VIII. This type gives a normal VWF antigen level and normal functional test results but has a low factor VIII. This has probably led to some 2N patients being misdiagnosed in the past as having hemophilia A, and should be suspected if the patient has the clinical findings of hemophilia A but a pedigree suggesting autosomal, rather than X-linked, inheritance.


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests

Turnaround Time

4 weeks