Pseudo-von Willebrand disease: GP1Ba Sequencing

Diagnostic Use

Pseudo-von Willebrand disease (Pseudo-VWD) is a rare autosomal dominant bleeding disorder that results from a gain-of-function mutation. Pseudo-VWD, also known as platelet type VWD, results from an abnormally high affinity interaction between the platelet glycoprotein Ib (GPIb) and its adhesive ligand von Willebrand factor (VWF), leading to characteristic platelet hyperaggregability. Rapid clearance of high molecular-weight VWF multimers from plasma, together with thrombocytopenia caused by an increased removal of the aggregated platelets, contribute tot eh bleeding problems experienced by patients with pseudo-VWD including frequent sever nosebleeds and excessive bleeding following surgical operations. The conditions share most of the clinical and laboratory features of type IIB VWD and the final discrimination between these conditions requests either platelet-mixing studies or a molecular genetic analysis.


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests


platelet type VWD

Turnaround Time

4 weeks