Screen for Mutation within EXON 28 of VWF

Molecular Haematology

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Description

Von Willebrand factor (VWF) is a multimeric glycoprotein found in plasma, subendothelium and platelets and synthesised by endothelial cells and megacaryocytes. A deficiency of VWF results in von Willebrand disease, the most common bleeding disorder found in humans and affecting up to 1% of some populations. VWD can be classified into three main categories; type 1 VWD is characterised by a quantitative deficiency inherited in an autosomal manner, type 3 VWD is the least common and is identified by very low or absent VWF and is inherited in an autosomal recessive mode; type 2 VWD is a qualitative deficiency where, although the protein may be present, it is functionally defective. Determination of causative mutation in patients with type 2 von Willebrand disease, by analysis of associated regions of the von Willebrand factor gene (type 2N; exons 18-23, type 2A and 2B; exon 28).

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Sample Type

10ml citrate or EDTA blood less than 48 hours old.

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Turnaround Time

Within 13 weeks

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Testing Frequency

As required

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