Fundamentals of Molecular Diagnostics - 1st Edition - ISBN: 9781416037378, 9781437719345

Fundamentals of Molecular Diagnostics

1st Edition

Authors: David Bruns Edward Ashwood Carl Burtis
Hardcover ISBN: 9781416037378
eBook ISBN: 9781437719345
Imprint: Saunders
Published Date: 25th May 2007
Page Count: 288

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This book offers an introduction to the newest, fastest-growing field in laboratory science. Explaining and clarifying the molecular techniques used in diagnostic testing, this text provides both entry-level and advanced information. It covers the principles of molecular biology along with genomes and nucleic acid alterations, techniques and instrumentation, and applications of molecular diagnostics. Written by leading experts, including Patrick Bossuyt, Angela Caliendo, Rossa W.K. Chiu, Kojo S.J. Elenitoba-Johnson, Andrea Ferreira-Gonzalez, Amy Groszbach, Sultan Habeebu, Doris Haverstick, Malek Kamoun, Anthony Killeen, Noriko Kusukawa, Y.M. Dennis Lo, Elaine Lyon, Gwendolyn McMillin, Christopher Price, James Versalovic, Cindy Vnencak-Jones, Victor Weedn, Peter Wilding, Thomas Williams, and Carl Wittwer, this book includes illustrations, tables, and a colorful design to make information easy to find and easy to use.

Key Features

  • A full-color, 4-page insert shows realistic images of the output for many molecular tests.
  • Learning Objectives open each chapter with an overview of what you should achieve.
  • Key Words are listed and defined at the beginning of each chapter, and are bolded in the text.
  • Review Questions at the end of every chapter let you measure your comprehension.
  • Advanced Concepts are included, but set apart from the rest of the text, for students who want a higher level of learning.
  • Ethics boxes address ethical issues, allowing you to apply your knowledge to real-life scenarios.
  • A glossary of all key words may be easily accessed in the back of the book.

Table of Contents

I. Principles

1. Principles of Molecular Biology

2. Genomes and Nucleic Acid Alterations

II. Techniques and Instrumentation

3. Specimen Collection and Processing

4. Nucleic Acid Isolation

5. Nucleic Acid Techniques

6. Miniaturization: DNA Chips and Devices

7. Design and Operation of a Molecular Diagnostics Laboratory

8. Introduction to Evidence-Based Molecular Diagnostics

III. Applications

9. Inherited Diseases

10. Identity Assessment

11. Molecular Methods in Diagnosis and Monitoring of Infectious Diseases

12. Pharmacogenetics

13. Molecular Genetics in Diagnosis of Human Cancers

IV. Appendix

14. Reference Information

Answers to Review Questions



No. of pages:
© Saunders 2007
25th May 2007
Hardcover ISBN:
eBook ISBN:

About the Authors

David Bruns

Affiliations and Expertise

Professor of Pathology, University of Virginia School of Medicine, Director of Clinical Chemistry and Associate Director of Molecular Diagnostics, University of Virginia Health System, Charlottesville, VA, and Former Editor, Clinical Chemistry, Washington, DC

Edward Ashwood

Affiliations and Expertise

Professor of Pathology, University of Utah School of Medicine, and President and CEO, ARUP Laboratories, Salt Lake City, UT

Carl Burtis

Affiliations and Expertise

Health Services Division, Oak Ridge National Laboratory, Oak Ridge, TN, and Clinical Professor of Pathology, University of Utah School of Medicine, Salt Lake City, UT


This book is the perfect companion textbook for a course in molecular diagnostics. It clearly explains the essentials and principles of various methods and methodologies, and is comprehensive without losing itself in technical minutiae. Although the book does not provide specific protocols and information for setting up a particular test, readers will gain beneficial knowledge on how to choose among different techniques. For those considering starting a molecular diagnostics laboratory, one chapter deals entirely with the design and the operation of such a laboratory. The book is organized into 3 sections. The first section introduces the basics of molecular biology that are required for an understanding of molecular diagnostics; section 2 describes the various techniques available and in current use; and section 3 discusses the practical applications of molecular diagnostic methods in the context of specific disease categories, such as heritable diseases, cancer, and infectious diseases. Each chapter also contains a short section with review questions to test the student’s comprehension of the material. In acknowledgment of the societal milieu in which we live, most chapters also include a short paragraph, in a separate text box, discussing some of the ethical questions raised by the application of the molecular methods described. This approach seems effective for increasing students’ awareness of these issues in the context of their future job functions in the laboratory. An excellent reference section is also provided, bringing together in one place information that the laboratorian often needs to look up quickly.

Overall, I believe this book is an excellent information source that has few, if any, deficiencies. Although it is clearly targeted at readers who are new to the area of molecular diagnostics, it also provides much useful information for the more advanced practitioner in the field. The editors are to be congratulated for putting together such a well-balanced text, and I can recommend it to anyone who wishes to get a good overview of current practice and gain insight regarding some future trends in the field of molecular diagnostics.

Erasmus Schneider, Clinical Chemistry. 2008; 54: 1097