Principles and Applications of Molecular Diagnostics - 1st Edition - ISBN: 9780128160619

Principles and Applications of Molecular Diagnostics

1st Edition

Editors: Nader Rifai A. Rita Horvath Carl T. Wittwer
Paperback ISBN: 9780128160619
Imprint: Elsevier
Published Date: 15th June 2018
Page Count: 436
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Principles and Aspects of Molecular Diagnostics is an accessible guide for clinical chemists and biologists applying molecular technology to clinical diagnosis. The book consists of two parts, with Part One covering principles and analytical concepts in molecular diagnostics, such as genomes and variants, nucleic acids isolation and techniques, circulating tumor cells and DNA, and cellular DNA. Part Two presents clinical applications of molecular diagnostics in solid tumors, prenatal diagnosis, infectious disease, genetic disease, hematopoietic malignancies, pharmacogenetics and identity testing. This book is ideal for those who need a thorough, yet succinct, guide on the use of this technology for molecular testing.

Key Features

  • Explains the principles and tools of molecular biology, along with the modern analytical tools that can be used to obtain the best results
  • Offers authoritative information written and edited by the top experts in molecular diagnostics
  • Provides references to seminal books, review articles and technical articles that go into greater depth, thus serving as the basis for further study


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


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© Elsevier 2018
Paperback ISBN:

About the Editor

Nader Rifai

Affiliations and Expertise

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

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 (Cojoint), School of Medical Sciences, University of New South Wales; Clinical Director, SEALS Department of Clinical Chemistry and Endocrinology; New South Wales Health Pathology, Prince of Wales Hospital, 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; Medical Director, Immunologic Flow Cytometry, ARUP Laboratories, Salt Lake City, UT, USA

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