Test Database

Description

Analysis of the VWF gene by PCR amplification and sequencing of the coding region and splice junctions. Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected.

Clinical details

Von Willebrand Disease is the most common hereditary bleeding disorder, typically associated with mucocutaneous bleeding (epitaxis, menorrhagia), easy bruising and bleeding post dental extraction. Type 1 VWD is autosomal dominant, with an estimated frequency of approximately 1:100-1000. It is generally clinically & phenotypically mild, although severe Type 1 VWD is seen and there is sometimes variable penetrance within families. Mutations are heterogeneous and spread throughout the VWF gene. Type 3 VWD is autosomal recessive and results in severe deficiency of plasma VWF. Patients suffer severe bleeding symptoms including hemarthroses, gastrointestinal bleeds and cerebral hemorrhage. Frequency is estimated at 1:500,000 to 1:2,000,000.

Related condition

Von Willebrand Disease Hereditary bleeding

Reference range

n/a

Units

n/a

Synonyms

VWF Von Willebrand disease Type 1 VWD Type 3 VWD

Testing site

Synnovis : Genomics : St Thomas' Hospital

Laboratory

Molecular Haemostasis