Chapter 14. Laboratory Analysis of von Willebrand Disease: Molecular Analysis

  1. Steve Kitchen PhD Clinical Scientist Scientific Director2,3,4,
  2. John D. Olson MD, PhD Professor Vice Chair for Clinical Affairs5,
  3. F. Eric Preston MD, FRCPath, FRCP Emeritus Professor of Hematology Director6,7
  1. A. Goodeve PhD,
  2. I. Peake PhD

Published Online: 4 MAR 2009

DOI: 10.1002/9781444303575.ch14

Book Title

Quality in Laboratory Hemostasis and Thrombosis

Quality in Laboratory Hemostasis and Thrombosis

Additional Information

How to Cite

Goodeve, A. and Peake, I. (2009) Laboratory Analysis of von Willebrand Disease: Molecular Analysis, in Quality in Laboratory Hemostasis and Thrombosis (eds S. Kitchen, J. D. Olson and F. E. Preston), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444303575.ch14

Editor Information

  1. 2

    Sheffield Hemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, UK

  2. 3

    UK National External Quality Assessment Scheme (EQAS) for Blood Coagulation, Sheffield, UK

  3. 4

    WHO and WFH International External Quality Assessment Programs for Blood Coagulation, Sheffield, UK

  4. 5

    Department of Pathology, University of Texas Health Science Center, San Antonio, Texas, USA

  5. 6

    University of Sheffield, Sheffield, UK

  6. 7

    WHO and WFH International External Quality Assessment Programs for Blood Coagulation, Rutledge Mews, Sheffield, UK

Author Information

  1. Academic Unit of Hematology, Henry Wellcome Laboratories for Medical Research, Sheffield, UK

Publication History

  1. Published Online: 4 MAR 2009
  2. Published Print: 19 DEC 2008

ISBN Information

Print ISBN: 9781405168038

Online ISBN: 9781444303575

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CHAPTER TOOLS

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Keywords:

  • von Willebrand disease - molecular analysis;
  • Human Gene Mutation Database (HGMD);
  • mutations in type 2 VWD - mutation location and VWF functional domain;
  • Type 1 VWD - most common form of disorder;
  • confirmation sensitive gel electrophoresis (CSGE);
  • mutation analysis in VWD;
  • prenatal diagnosis rarely requested in VWD;
  • internal and external quality control;
  • external quality assessment (EQA) through UK National External Quality Assessment Scheme (NEQAS)

Summary

This chapter contains sections titled:

  • Type 3 VWD

  • Type 2 VWD

  • Type 1 VWD

  • Mutation analysis

  • Prenatal diagnosis

  • Internal quality control

  • External quality control

  • External quality assessment

  • References

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