Molecular Diagnostics / Edition 1

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This updated and expanded tutorial guide to molecular diagnostic techniques takes advantage of many new molecular technologies to include both improved traditional methods and totally new methods, some not yet in routine use. The authors offer cutting-edge molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing, as well as new insights into the question of quality assurance in the molecular diagnostics laboratory. Additional chapters address other technologies found in the clinical laboratory that complementary to molecular diagnostic technologies and discuss genetic counseling and the ethical and social issues involved with nucleic acid testing. A value-added compact disk containing a companion e-book version of the book, is included for downloading and use in the reader's PC or PDA.

The book contains black-and-white illustrations.

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Editorial Reviews

From The Critics
Reviewer:Valerie L Ng, PhD MD (Alameda County Medical Center/Highland Hospital)
Description:This slim yet weighty book is the second edition of a comprehensive review of molecular diagnostic testing in the clinical laboratory.
Purpose:The purpose of this edition was to update the previous edition, given the rapid pace of technological evolution in diagnostic testing in today's clinical laboratory. Given the pace at which this field of laboratory testing is progressing, the authors have succeeded admirably in providing an "all in one" text that is current.
Audience:This book would be useful to anyone interested in this area of laboratory testing. Obvious audiences include pathologists (in training or in practice) , clinical laboratory scientists (CLSs, students or in practice) , and any healthcare provider whose daily practice involves ordering these tests and interpreting the results in conjunction with their patient's symptoms.
Features:This book (and accompanying eBook on CD-ROM) is quite a tour de force on molecular diagnostic testing. I was quite delighted to read the first chapter discussing the historical perspective on clinical laboratory testing. Such a perspective dramatically highlights the rapid technological advances in all laboratory testing, let alone molecular diagnostics, which have occurred in the last century and especially in the last decade. The book is divided into nine additional sections. The first section discusses basic theory and technology underlying molecular testing — e.g., nucleic acid chemistry, extraction of nucleic acids, blotting techniques, amplification techniques, andbioinformatics. The next eight sections then discuss clinical molecular diagnostic testing related to different clinical situations (e.g., disease, genetic counseling, identity verification, etc.) . An entire section is devoted to quality assurance in the molecular diagnostic laboratory — an area with many unresolved issues. One chapter devoted to laboratory-developed tests is quite useful, listing key references and international standards to assure that the laboratory is adhering to well recognized quality practices. In general, I found the book to be useful and only had two minor criticisms. The first is that the writing style tends to be traditional and didactic — not the most conducive to holding the attention of the reader. The second relates to a less than complete discussion of the clinical utility of such testing. More specifically, analytical sensitivities and specificities of individual tests are covered in great detail, whereas critical analyses of clinical sensitivities, specificities, and utility are often lacking or treated superficially. This, admittedly, is a very minor criticism given that information on the clinical utility of these tests is still accruing.
Assessment:This is a great book to have handy for ready reference in this rapidly evolving field. While the reader may not use this reference daily, there is no question that it will be needed for those occasions when such testing is ordered and a clinical consultation between the clinical laboratory and the healthcare provider is necessary.
Provides a detailed update on the latest advances in molecular diagnostics, proceeding from a discussion of elementary nucleic acid technology and a review of advanced techniques to descriptions of applications in clinical medicine. Discusses applications in cancer, hematological malignancies, cardiovascular disease, and neuromuscular, endocrine, and infectious diseases. Also discusses quality control issues, the ethical and legal implications of genetic testing, and new technologies such as chip-based assays. Of interest to clinical laboratory scientists, medical technologists, residents, fellows, and clinicians in all medical disciplines. Annotation c. by Book News, Inc., Portland, Or.

3 Stars from Doody
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Product Details

  • ISBN-13: 9780896033733
  • Publisher: Springer-Verlag New York, LLC
  • Publication date: 12/20/2009
  • Series: Pathology and Laboratory Medicine Series
  • Edition description: Older Edition
  • Edition number: 1
  • Pages: 404
  • Product dimensions: 0.94 (w) x 10.00 (h) x 7.00 (d)

Table of Contents

1 An historical perspective on the clinical diagnostic laboratory 3
2 An overview of nucleic acid biochemistry, structure, and function : the foundations of molecular biology 13
3 Extraction of nucleic acids 25
4 Nucleic Acid blotting techniques : theory and practice 31
5 The polymerase chain reaction 47
6 Bioinformatics : computer-based approaches to genetic analysis 57
7 PCR-based methods for mutation detection 65
8 Alternative methods for amplified nucleic acid testing 75
9 Electrophoretic methods for mutation detection and DNA sequencing 85
10 Single nucleotide polymorphisms : testing DNA variation for disease association 111
11 Microarray approaches to gene expression analysis 121
12 Methods for analysis of DNA methylation 149
13 Flow Cytometry 163
14 Medical cytogenetics 173
15 Fluorescence in situ hybridization : a major milestone in luminous cytogenetics 189
16 Immunohistochemistry 203
17 Laser capture microdissection 219
18 Framework for quality assurance principles 227
19 Verification of molecular assays 237
20 Standards and standardization of molecular diagnostics 243
21 Laboratory-developed assays in molecular diagnostics 247
22 An overview of molecular genetics 259
23 Genetic basis of neurologic and neuromuscular diseases 267
24 Molecular mechanisms of endocrine disorders 281
25 Molecular pathogenesis of cardiovascular disease 295
26 Molecular diagnostics in coagulation 311
27 Cystic fibrosis 321
28 Prenatal genotyping for identification of fetuses at risk for immune cytopenic disorders 329
29 Personalized medicine 341
30 Molecular pathogenesis of human cancer 349
31 Application of molecular diagnostics to hereditary nonpolyposis colorectal cancer 375
32 Molecular genetic applications to the diagnosis of lymphoma 393
33 Molecular genetic abnormalities in acute and chronic leukemias 415
34 Molecular testing for Chlamydia trachomatis and Neisseria gonorrhoeae 437
35 Human papillomavirus 447
36 Molecular diagnosis for HIV-1 453
37 Hepatitis C 461
38 Cytomegalovirus 473
39 HLA Typing using molecular methods 485
40 Molecular analysis for forensic casework and parentage testing 495
41 Molecular assessment of bone marrow transplant engraftment 511
42 The use of DNA-based identity testing for specimen identification 517
43 Genetic counseling considerations in molecular diagnosis 525
44 Ethical, social, and legal issues related to molecular genetic testing 545
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