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Test Identifier Information

Registration CodeMOLP

Exon 28 of the VWF gene is amplified using PCR and analysed using DNA sequencing.

Diagnostic Use / Indications

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. Type 2 VWD (20-30% of all VWD cases) is a qualitative defect and the bleeding tendency can vary between individuals. There are normal levels of VWF, but the multimers are structurally abnormal or subgroups of large or small multimers are absent. VWD Type 2B is a "gain of function" autosomal dominant defect leading to spontaneous binding to platelets and subsequent rapid clearance of the platelets and the large VWF multimers. A mild thrombocytopenia may occur. The large VWF multimers are absent in the circulation and the factor VIII binding is normal.

Constituent TestsGenomic DNA Extraction ;
External Price$0.00(Exclusive of GST)

Specimen Collection

Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient

CHLabs Laboratory

DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

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