Download or read book Techniques in Diagnostic Human Biochemical Genetics written by Frits A. Hommes and published by Wiley-Liss. This book was released on 1991 with total page 674 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an up-to-date review of procedures currently in use in diagnostic biochemical genetics laboratories around the world. Offers not only accounts of methodology but also provides guidelines for the interpretation of both standard and abnormal results. The text includes coverage of most of the methods being employed to determine specific analyses as well as discussions of statistics and data management and the protocols of transmitting laboratory results with genetic information. Many of the chapters contain introductory sections describing background information on the development of a particular genetic test and an evaluation of the clinical significance and applicability of the test.
Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2008-05-31 with total page 860 pages. Available in PDF, EPUB and Kindle. Book excerpt: This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Download or read book Biochemical Genetics written by Emmanuel Shapira and published by Oxford University Press, USA. This book was released on 1989 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: The most comprehensive laboratory manual of its kind, this book summarizes the common assays and laboratory procedures used for the diagnosis of genetic biochemical disorders. Written in cookbook fashion, it provides detailed descriptions of the procedures currently used in the diagnostic work-up of patients with underlying inherited inborn errors of metabolism. General procedures and buffer preparations are discussed. Fluorometric and spectrophotometric assays for lysosomal and non-lysosomal enzymes, radioisotope methods, and tests for metabolic disorders such as qualitative spot tests and thin-layer chromatography are included. For each assay, the authors list the tissues to which it has been applied, control ranges for leukocyte and fibroblast preparations, and commercial sources of substrates. Clear and concise, this guidebook is designed to be accessible even to those with limited experience, and will be an invaluable aid for genetics laboratories and medical geneticists.
Download or read book Diagnostic Techniques in Genetics written by Jean-Louis Serre and published by John Wiley & Sons. This book was released on 2007-01-11 with total page 270 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent developments within molecular biology and genetic engineering have led to huge advances and changes within the biological sciences especially within the field of human genetics. Diagnostic Techniques in Genetics offers an important overview of how DNA or RNA technology may be applied to a large set of genetic diagnoses. The first part of the book focuses on DNA/RNA applications and includes many of the latest developments in the field combined with routine procedures of genetic diagnoses, for example cloning and sequencing DNA. The DNA applications presented in the first chapter are then each applied to a specific kind of genetic diagnosis and the text concludes with a chapter devoted to population genetics. First published in French by Dunod in 2002, this book is an excellent reference for students taking courses in molecular biology, medicine and medical genetics. It is also a useful introduction for postgraduate students and researchers in the field who require a general overview of genetic diagnoses.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Molecular Diagnostics written by Wayne W. Grody and published by Academic Press. This book was released on 2009-11-06 with total page 518 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. - Serves as the definitivereference for molecular pathologists worldwide - Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics - Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Download or read book Practical Genetic Counseling for the Laboratory written by McKinsey L. Goodenberger and published by Oxford University Press. This book was released on 2017-02-28 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential manual for the future of genetic counseling Genetic counselors possess the important set of skills necessary to face the unique challenges encountered within the laboratory. As the primary liaisons between genetic technologies and patient-facing clinicians, lab counselors must have equal competency in genetic testing protocols, interpretation, and communication of clinical recommendations. Practical Genetic Counseling for the Laboratory is the first book to codify the theory and practice of laboratory genetic counseling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counselors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counselors at any career stage. Topical coverage includes: · Interpretation of genetic tests, including those specific to biochemical genetics, cytogenetics, molecular genetics, and prenatal screening · Practical guidelines for test utilization, test development, and laboratory case management · Elements for education and training in the laboratory · Counseling skills, including the consideration of ethical dilemmas, nonclinical considerations, including sales and publishing For students in this important sector of the industry or for counselors already working in it, Practical Genetic Counseling for the Laboratory offers readers a standardized approach to a dynamic subject matter that will help shape the field's future.
Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer Science & Business Media. This book was released on 2010-01-01 with total page 784 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume presents a useful and up-to-date handbook containing information relevant to the clinical practice of molecular genetic pathology. It features organized, detailed text on specific molecular genetic techniques. The volume provides a unique reference for the practicing pathologist and medical geneticist, as well as a review book for residents and fellows in training in pathology, medical genetics and molecular genetic pathology.
Download or read book Human Biochemical Genetics written by and published by . This book was released on 1973 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Diagnostics and Gene Therapy for Human Genetic Disorders written by K.V. Chaitanya and published by CRC Press. This book was released on 2022-12-30 with total page 461 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostics and Gene Therapy for Human Genetic Disorders provides an integrative and comprehensive source of information blending classical human genetics with the human genome. It provides a multidisciplinary overview of Mendelian inheritance and multifactorial inheritance, genetic variations, polymorphisms, chromosomal, multifactorial, and mitochondrial disorders. PCR, electrophoresis, cytogenetics, prenatal, and HPLC based techniques applied for diagnosing genetic disorders are discussed with applications. Symptoms, etiology, diagnosis, treatment of 14 major and 5 minor genetic disorders are discussed in detail. Methods employed for the preparation of kits for the diagnosis of diseases are provided. The role of gene therapy in the amelioration of genetic disorders and the methodology employed are discussed. The success of gene therapy in controlling various disorders such as immune system disorders, neurodegenerative disorders, cardiovascular disorders, eye diseases, and cancer has been described along with type studies. Features: A blend of classical human genetics with molecular and genome-based applications Techniques applied for the diagnosis of genetic disorders Diagnostics of 19 genetic disorders including symptoms, etiology, diagnosis, and treatment Role of gene therapy in the amelioration of disorders Type studies describing the role of diagnostics in conserving the human health This book attempts to connect all the information about classical and modern human genetics, genetic disorders, and gene therapy to all types of diseases in one place. This work provides a comprehensive source of information that can serve as a reference book for scientific investigations and as a textbook for the graduate students.
Download or read book Advances in Human Genetics 21 written by Harry Harris and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
Download or read book Human Biochemical Genetics written by H. Harris and published by Cambridge University Press. This book was released on 1966-01-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: This survey of human inherited metabolic abnormalities, originally published in 1959, was a worthy successor to A. E. Garrod's classic Inborn Errors of Metabolism. An enormous amount of knowledge on this subject had been accumulated in the intermittent period and Professor Harris presents an account that at the time was both precise and concise, as well as being highly readable. The study of human biochemical genetics in 1959 involved material that came from a number of disciplines, of which medicine, genetics, biochemistry, chemical pathology and anthropology were the chief. This book aimed to help direct the attention of investigators in each of these subjects to the results, and the implications of the results, obtained by those working in others. It also attempted to indicate the bearing and significance of these results on what was one of the most fundamental problems in biology, namely the mode of action of the hereditary units - the genes of classical genetics
Download or read book Diagnostic Molecular Biology written by Chang-Hui Shen and published by Elsevier. This book was released on 2023-06-29 with total page 590 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostic Molecular Biology, Second Edition describes the fundamentals of molecular biology in a clear, concise manner with each technique explained within its conceptual framework and current applications of clinical laboratory techniques comprehensively covered. This targeted approach covers the principles of molecular biology, including basic knowledge of nucleic acids, proteins and chromosomes; the basic techniques and instrumentations commonly used in the field of molecular biology, including detailed procedures and explanations; and the applications of the principles and techniques currently employed in the clinical laboratory. Topics such as whole exome sequencing, whole genome sequencing, RNA-seq, and ChIP-seq round out the discussion. Fully updated, this new edition adds recent advances in the detection of respiratory virus infections in humans, like influenza, RSV, hAdV, hRV but also corona. This book expands the discussion on NGS application and its role in future precision medicine. - Provides explanations on how techniques are used to diagnosis at the molecular level - Explains how to use information technology to communicate and assess results in the lab - Enhances our understanding of fundamental molecular biology and places techniques in context - Places protocols into context with practical applications - Includes extra chapters on respiratory viruses (Corona)
Download or read book The principles of human biochemical genetics 2 rev and enl written by Harry Harris and published by . This book was released on 1975 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Separation Techniques in Clinical Chemistry written by Hassan Y. Aboul-Enein and published by CRC Press. This book was released on 2003-05-28 with total page 541 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference examines innovations in separation science for improved sensitivity and cost-efficiency, increased speed, higher sample throughput and lower solvent consumption in the assessment, evaluation, and validation of emerging drug compounds. It investigates breakthroughs in sample pretreatment, HPLC, mass spectrometry, capillary electrophoresis and therapeutic drug monitoring for improved productivity, precision, and safety in clinical chemistry, biomedical analysis, and forensic research. From saliva, hair, and biological samples to illegal drugs and toxins, Separation Techniques in Clinical Chemistry is a thorough single-source guide for analytical, organic, pharmaceutical, medicinal, physical, surface, and colloid chemists and biochemists; and upper-level undergraduate and graduate students in these disciplines.
Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
