Diagnostic Molecular Pathology

1st Edition

A Guide to Applied Molecular Testing

Print ISBN: 9780128008867
eBook ISBN: 9780128011577
Imprint: Academic Press
Published Date: 28th October 2016
Page Count: 582
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Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing is organized around disease types (genetic disease, infectious disease, neoplastic disease, among others). In each section, the authors provide background on disease mechanisms and describe how laboratory testing is built on knowledge of these mechanisms. Sections are dedicated to general methodologies employed in testing (to convey the concepts reflected in the methods), and specific description of how these methods can be applied and are applied to specific diseases are described.

The book does not present molecular methods in isolation, but considers how other evidence (symptoms, radiology or other imaging, or other clinical tests) is used to guide the selection of molecular tests or how these other data are used in conjunction with molecular tests to make diagnoses (or otherwise contribute to clinical workup). In addition, final chapters look to the future (new technologies, new approaches) of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests.

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing contains exercises to test readers on their understanding of how molecular diagnostic tests are utilized and the value of the information that can be obtained in the context of the patient workup. Readers are directed to an ancillary website that contains supplementary materials in the form of exercises where decision trees can be employed to simulate actual clinical decisions.

Key Features

  • Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis, and classification in the clinical workup of a patient
  • Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for prognostication of disease
  • Features an ancillary website with self-testing exercises where decision trees can be employed to simulate actual clinical decisions
  • Highlights new technologies and approaches of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests


Medical fellows in pathology and laboratory medicine, clinical pathologists, clinical laboratory scientists, and clinicians across internal medicine subspecialties, as well as biomedical science graduate students

Table of Contents

Section 1: Introduction to Molecular Testing

1. Basic Concepts in Molecular Pathology – Introduction to Molecular Testing in Human Disease

  William B. Coleman and Gregory J. Tsongalis

2. Laboratory Approaches in Molecular Pathology – Polymerase Chain Reaction and Other Amplification Techniques

  William B. Coleman and Gregory J. Tsongalis

3. Laboratory Approaches in Molecular Pathology – Next Generation Sequencing

  Nirali M. Patel and Daniel L. Duncan

4. Laboratory Approaches in Molecular Pathology – Automation in the Molecular Pathology Laboratory

  Gregory J. Tsongalis and Scot Turner

Section 2:Molecular Testing in Infectious Disease

5. Molecular Testing for Human Immunodeficiency Virus (HIV)

  Bruno Pozzetto

6. Molecular Testing in Hepatitis Virus-related Disease (HBV, HCV)

  Tomasz I. Michalak

7. Molecular Testing for Human Papilloma Viruses

  Katie M. Bennett

8. Molecular Testing for Herpes Viruses

  Benjamin A. Pinsky

9. Molecular Testing for Parvoviruses

  Giorgio Gallinella

10. Molecular Testing for Polyomaviruses

  Belinda Yen-Lieberman and Gary W. Procop

11. Molecular Testing for Respiratory Viruses

  Kathleen A. Stellrecht

12. Molecular Testing for Diseases Associated with Bacterial Infection

  Melissa Miller

13. Infectious Agents Associated with Sexually-transmitted Diseases

  Bruno Pozzetto

14. Infectious Agents Associated with Nosocomial Infection (MRSA, C. difficile)

  Rodney Climaco Arcenas

15. Molecular Testing in Emerging Infectious Diseases



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"Diagnostic Molecular Pathology is destined to become an important cornerstone and go-to volume for pathologists, researchers, and clinicians—indeed anyone who wants to understand the approach and application of modern molecular techniques in disease detection and diagnosis. Drs. Coleman and Tsongalis—and their impressive stable of contributors—are to be congratulated for making the exciting and rapidly expanding science of molecular diagnosis accessible to the novice, while also providing the expert with important details on the nuances.  Beyond just a compendium of useful information, it is a well-curated journey through basic concepts, infectious diseases, malignancy, hematopathology, and genetic diseases—and even includes access to a website with lab test videos and decision-making exercises." --Richard N. Mitchell, MD, PhD (Brigham and Women's Hospital and Harvard Medical School)

"With much fanfare, molecular techniques have revolutionized clinical medicine, from diagnosis to personalized medical therapeutics.  It is with this background that Diagnostic Molecular Pathology approaches the daunting task of summarizing the advances in the field from infectious disease, heritable and acquired genetic diseases, hematological malignancies, to pharmacogenomics.  In a comprehensive publication, the editors perform a yeoman’s effort in covering this dynamic and exciting field." --Lawrence M. Silverman, PhD (University of Virginia School of Medicine)

"Diagnostic Molecular Pathology provides a panoramic view of diagnostic molecular pathology testing, written by leaders in the field.  It is a great reference and learning tool." --Dani S. Zander, MD (University of Cincinnati Medical Center)