19. Quality Issues in Heritable Thrombophilia Testing

  1. Steve Kitchen PhD3,
  2. John D. Olson MD, PhD4 and
  3. F. Eric Preston MD, FRCPath, FRCP5
  1. Isobel D. Walker1,2 and
  2. Ian Jennings2

Published Online: 26 FEB 2013

DOI: 10.1002/9781118543467.ch19

Quality in Laboratory Hemostasis and Thrombosis, Second Edition

Quality in Laboratory Hemostasis and Thrombosis, Second Edition

How to Cite

Walker, I. D. and Jennings, I. (2013) Quality Issues in Heritable Thrombophilia Testing, in Quality in Laboratory Hemostasis and Thrombosis, Second Edition (eds S. Kitchen, J. D. Olson and F. E. Preston), John Wiley & Sons, Ltd, Oxford, UK. doi: 10.1002/9781118543467.ch19

Editor Information

  1. 3

    Clinical Scientist Sheffield Hemophilia and Thrombosis Centre Royal Hallamshire Hospital Sheffield; and Scientific Director, UK National External Quality Assessment Scheme (NEQAS) for Blood Coagulation Scientific Director, WHO and WFH International External Quality Assessment Programs for Blood Coagulation Sheffield, UK

  2. 4

    Professor and Vice Chair for Clinical Affairs Department of Pathology University of Texas Health Science Center; and Director of Clinical Laboratories University Health System San Antonio, TX, USA

  3. 5

    Emeritus Professor of Hematology University of Sheffield Sheffield; and Director, WHO and WFH International External Quality Assessment Programs for Blood Coagulation Sheffield, UK

Author Information

  1. 1

    University of Glasgow, Scotland, UK

  2. 2

    UK NEQAS for Blood Coagulation, Sheffield, UK

Publication History

  1. Published Online: 26 FEB 2013
  2. Published Print: 20 APR 2013

ISBN Information

Print ISBN: 9780470671191

Online ISBN: 9781118543467

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Keywords:

  • antithrombin;
  • protein C;
  • protein S;
  • factor V Leiden;
  • prothrombin G20210A

Summary

Testing for heritable thrombophilia usually includes chromogenic assays of antithrombin and protein C activity, an immunologic assay of free protein S and tests for the factor V Leiden mutation and the prothrombin G20210A polymorphism. Other tests such as a clotting assay of protein C, homocysteine assay or fibrinogen studies may occasionally be considered but in general these are the province of specialist laboratories. Testing should be limited to carefully selected patients and, when antithrombin, protein C and protein S are to be assayed, attention paid to timing sample collection to avoid misdiagnosis resulting from acquired deficiency due to physiological or pathological conditions or their management. It is of paramount importance that the results of the tests are interpreted by someone who knows the clinical details of the individual from whom the sample was taken and understands the limitations of the laboratory tests.