Principles and Applications of Molecular Diagnostics

Principles and Applications of Molecular Diagnostics

1st Edition - June 13, 2018

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  • Editors: Nader Rifai, A. Rita Horvath, Carl T. Wittwer, Jason Park
  • Paperback ISBN: 9780128160619
  • eBook ISBN: 9780128160626

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Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments.

Key Features

  • Explains the principles and tools of molecular biology
  • Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results
  • Provides a detailed description of current molecular applications used to solve diagnostics tasks


Chemists working in clinical laboratories (hospitals and commercial labs), pharmaceutical researchers, biotech researchers, government agencies (CDC, NIST, EPA) and standardization groups, forensic scientists and criminologists, biodefense and bioterrorism researchers, mass spec manufacturers

Table of Contents

  • 1. Principles of molecular biology
    2. Genomes and variants
    Wittwer, Park
    3. Nucleic acid isolation
    4. Nucleic acid techniques
    Wittwer, Makrigiorgos
    5. Molecular microbiology
    6. Genetics
    Vnencak-Jones, Best
    7. Solid tumor genomics
    8. Genetic aspects of hematopoietic malignancies
    Kelley, Patel
    9. Circulating tumor cells
    Lianidou, Hoon
    10. Circulating nucleic acids for prenatal diagnostics
    Chiu, Lo
    11. Pharmacogenetics
    McMillin, Wadelius, Pratt
    12. Identity testing
    Weedn, Gettings, Podini

Product details

  • No. of pages: 422
  • Language: English
  • Copyright: © Elsevier 2018
  • Published: June 13, 2018
  • Imprint: Elsevier
  • Paperback ISBN: 9780128160619
  • eBook ISBN: 9780128160626

About the Editors

Nader Rifai

Affiliations and Expertise

Professor Department of Pathology Harvard Medical School; The Louis Joseph Gay-Lussac Chair in Laboratory Medicine Boston Children's Hospital; Director of Clinical Chemistry Laboratory Medicine Boston Children's Hospital Boston, Massachusetts

A. Rita Horvath

Andrea Rita Horvath’s key research interests include evidence-based laboratory medicine (EBLM) including evidence-based monitoring, guideline development, and evaluation of new biomarkers and overdiagnosis. She holds advisory roles on test utilization and reimbursement policy at the National Prescribing Service of Australia and Medicare. She has published 160 research papers and 16 book chapters and has been an invited speaker at over 100 international conferences. Her national and international leadership positions include Chair of the IFCC Committee on EBLM (2003-2008); European Communities Confederation of Clinical Chemistry and Laboratory Medicine (EC4) Secretary (2005-2007); President of the Hungarian Society (2005-2008) and the Hungarian College of Laboratory Medicine (2008-2009); President-Elect (2007-2009), President (2009-2011) and Past President (2012-2013) of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM); chair of the EFLM working group on Test Evaluation (2011-2015) and member of the Board of Directors of the American Association of Clinical Chemistry (2014-2016).

Affiliations and Expertise

Professor, School of Medical Sciences, University of New South Wales, Sydney, Australia

Carl T. Wittwer

Dr. Wittwer is currently the medical director of Immunologic Flow Cytometry at Associated Regional and University Pathologists (ARUP), Salt Lake City, UT. In the early 1990s, he initiated molecular diagnostics at ARUP by forming its first molecular lab. From 2002 to 2012 he served as medical director of the Advanced Technology Group at ARUP. He is board certified in anatomic and clinical pathology by the American Board of Pathology. In 1990, Dr. Wittwer co-founded BioFire Diagnostics, a company that has grown to over 600 people. He is the primary inventor of the LightCycler® system, and he served as Chairman of the Board from 2012-2014 until the company was acquired by BioMerrieux. In 2003 the R.A.P.I.D.®, a portable version of the LightCycler, was selected as the real-time PCR platform for military defense against biologic weapons by the US government. Dr. Wittwer holds 37 US patents and their foreign equivalents. He received small business innovation awards in 1999 and 2002, the State of Utah Governor’s Medal for Science and Technology in 2003 and the IQLM Technical Advancement Award in 2005. Since 2003, he has directed the State of Utah Center of Excellence on “Homogeneous DNA Analysis.”

Affiliations and Expertise

Professor of Pathology, University of Utah School of Medicine, Salt Lake City, UT USA

Jason Park

Affiliations and Expertise

Associate Professor of Pathology, University of Texas Southwestern Medical Center Director of Advanced Diagnostics Laboratory Children’s Medical Center Dallas, TX USA

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