Chapter 20
Molecular Profiling Methods in the Diagnosis of Hematologic Disorders
Annette S. Kim MD, PhD,
Stephen R. Master MD, PhD,
Cherie H. Dunphy MD, FCAP, FASCP,
Annette S. Kim MD, PhD
Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA
Search for more papers by this authorStephen R. Master MD, PhD
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Search for more papers by this authorCherie H. Dunphy MD, FCAP, FASCP
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, USA
Search for more papers by this authorAnnette S. Kim MD, PhD,
Stephen R. Master MD, PhD,
Cherie H. Dunphy MD, FCAP, FASCP,
Annette S. Kim MD, PhD
Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA
Search for more papers by this authorStephen R. Master MD, PhD
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Search for more papers by this authorCherie H. Dunphy MD, FCAP, FASCP
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, USA
Search for more papers by this authorBook Editor(s):Kandice Kottke-Marchant MD, PhD,
Bruce H. Davis MD,
Kandice Kottke-Marchant MD, PhD
Pathology & Laboratory Medicine Institute, Cleveland, OH, USA
Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA
Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA
Search for more papers by this authorFirst published: 10 April 2012
Summary
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.
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