Screen Entire Von Willebrand Factor Gene for Mutations

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.Genetic AnalysisDetermination 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).Complete mutation screen of all 52 exons of von Willebrand factor for a previously unknown mutation using conformation sensitive gel electrophoresis and direct DNA sequencing.Analysis of VWF gene inheritance by linkage analysis using three intragenic polymorphisms (short tandem repeats in the promotor and intron 40).Prenatal diagnosis of von Willebrand disease by analysis of a previously determined mutation or informative polymorphic marker.

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Sample Type

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

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Turnaround Time

Within 26 weeks

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Testing Frequency

As required

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