20. Molecular Profiling Methods in the Diagnosis of Hematologic Disorders

  1. Kandice Kottke-Marchant MD, PhD4,5,6 and
  2. Bruce H. Davis MD7
  1. Annette S. Kim MD, PhD1,
  2. Stephen R. Master MD, PhD2 and
  3. Cherie H. Dunphy MD, FCAP, FASCP3

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch20

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

Kim, A. S., Master, S. R. and Dunphy, C. H. (2012) Molecular Profiling Methods in the Diagnosis of Hematologic Disorders, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch20

Editor Information

  1. 4

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 5

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 6

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 7

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. 1

    Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA

  2. 2

    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  3. 3

    Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, USA

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595



  • gene expression profiling;
  • aCGH;
  • aSNP;
  • methylation profiling;
  • proteomics


The world of laboratory medicine is rapidly evolving from a limited set of assays that probe individual analytes by basic biochemical and immunologic methods, to a complex high-tech realm in which hundreds and thousands of analytes are simultaneously evaluated. These newer methodologies share both the advantage of a wealth of detailed information and the issues of quality control, data manipulation, and interpretation. This chapter provides a primer on the various technologies behind gene expression profiling, array comparative genomic hybridization, array single nucleotide polymorphism assays, methylation profiling, and proteomics. Special attention is also given to some of the interpretation methodologies; examples of the application of these techniques to hematologic disorders are given.