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Molecular Diagnosis of Genetic Diseases by Rob Elles Pdf
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Molecular Diagnosis of Genetic Diseases by Rob Elles Pdf
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Molecular Diagnosis of Genetic Diseases by Rob Elles Pdf
Clinical diagnosticians present their best and most reproducible methods for the molecular diagnosis of nearly all of the most common genetic disease that are covered by molecular genetics laboratories. The descriptions are organized by disease or diagnostic area, and include not only the day-to-day instruction and wisdom, but also suggestions for.
Molecular Diagnostics by George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson Pdf
Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field
Molecular Diagnostics: Promises and Possibilities by Mousumi Debnath,Godavarthi B.K.S. Prasad,Prakash S. Bisen Pdf
A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.
Molecular Diagnosis of Genetic Diseases by Rob Elles,Roger Mountford Pdf
This second edition of Molecular Diagnosis of Genetic Diseases greatly expands and updates the information contained in the first edition. In addition, the book is now divided into two logical sections comprising a total of 55 chapters. The first section covers the applications of molecular diagnostics in clinical practice. Each application chapter opens with a brief introduction, and then describes categories of referral and guidance on suitable referral criteria for genetic testing, and also provides a descriptive overview of the various methods used in testing. At the core of each chapter is a handy table listing key primers and conditions for testing. Chapters also discuss controls, pitfalls, and offer guidance on interpretation and reporting. The basic techniques chapters provide step-by-step methods such as PCR, hybridization assays and detection techniques that can be easily reproduced in the genetics testing lab. Together, these 55 chapters provide a comprehensive reference for the molecular diagnosis of genetic diseases.
Diagnostic Molecular Pathology by William B. Coleman,Gregory J. Tsongalis Pdf
Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient 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 the prognostication of disease
Principles and Applications of Molecular Diagnostics by Nader Rifai,A. Rita Horvath,Carl T. Wittwer,Jason Park Pdf
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. 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
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders by Lee-Jun C. Wong Pdf
Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.
Molecular Diagnosis by S Jeffery,Prof Steven Myint,J Booth Pdf
There has been a rapid introduction of nucleic acid-based analysis techniques into diagnostic laboratories and routine screening procedures. This timely book presents a concise overview of the molecular diagnosis of human disease. It focuses on the techn
Genetic Disorders and the Fetus by Aubrey Milunsky Pdf
About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
Assessing Genetic Risks by Institute of Medicine,Committee on Assessing Genetic Risks Pdf
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author : William B. Coleman,Gregory J. Tsongalis Publisher : Springer Science & Business Media Page : 387 pages File Size : 54,7 Mb Release : 2013-04-18 Category : Medical ISBN : 9781475725889
Molecular Diagnostics by William B. Coleman,Gregory J. Tsongalis Pdf
Notable practitioners describe how laboratory medicine is practiced today and illuminate how it will function tomorrow as the revolutionary advances afforded by molecular diagnostics become increasingly central to effective analysis. Proceeding from a discussion of elementary nucleic acid technology to a review of the more advanced techniques, the distinguished contributors lay the groundwork for a comprehensive understanding of their applications throughout clinical medicine. The result is a detailed description of those molecular technologies currently used in diagnostic laboratories, as well as those that seem particularly promising. Detailed discussions of specific clinical applications include those for cancer, hematological malignancies, cardiovascular disease, and neuromuscular, endocrine, and infectious diseases.
Author : William B. Coleman,Gregory J. Tsongalis Publisher : Springer Science & Business Media Page : 567 pages File Size : 53,7 Mb Release : 2007-10-28 Category : Medical ISBN : 9781592599288
Molecular Diagnostics by William B. Coleman,Gregory J. Tsongalis Pdf
Accompanying CD-ROM contains ... "a companion eBook version of Molecular diagnostics : for the clinical laboratorian, Second edition ... for downloading and use in the reader's PC or PDA."--Page 4 of cover.
