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| chromosomal microarray analysis cost: Screening for Down's Syndrome J. G. Grudzinskas, 1994-11-17 This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care. |
| chromosomal microarray analysis cost: An Evidence Framework for Genetic Testing National Academies of Sciences, Engineering, and Medicine, Health and Medicine Division, Board on Health Care Services, Board on the Health of Select Populations, Committee on the Evidence Base for Genetic Testing, 2017-04-21 Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care. |
| chromosomal microarray analysis cost: Cytogenetic Laboratory Management Susan Mahler Zneimer, 2016-11-21 Cytogenetic Laboratory Management Cytogenetic Laboratory Management Chromosomal, FISH and Microarray-Based Best Practices and Procedures Cytogenetic Laboratory Management: Chromosomal, FISH and Microarray-Based Best Practices and Procedures is a practical guide that describes how to develop and implement best practice processes and procedures in the genetic laboratory setting. The text first describes good laboratory practices, including quality management, design control of tests, and FDA guidelines for laboratory-developed tests, and preclinical validation study designs. The second focus of the book is on best practices for staffing and training, including cost of testing, staffing requirements, process improvement using Six Sigma techniques, training and competency guidelines, and complete training programs for cytogenetic and molecular genetic technologists. The third part of the text provides stepwise standard operating procedures for chromosomal, FISH and microarray-based tests, including preanalytic, analytic, and postanalytic steps in testing, which are divided into categories by specimen type and test type. All three sections of the book include example worksheets, procedures, and other illustrative examples that can be downloaded from the Wiley website to be used directly without having to develop prototypes in your laboratory. Providing a wealth of information on both laboratory management and molecular and cytogenetic testing, Cytogenetic Laboratory Management will be an essential tool for laboratorians worldwide in the field of laboratory testing and genetic testing in particular. This book gives the essentials of: Developing and implementing good quality management programs in laboratories Understanding design control of tests and preclinical validation studies and reports FDA guidelines for laboratory-developed tests Use of reagents, instruments, and equipment Cost of testing assessment and process improvement using Six Sigma methodology Staffing training and competency objectives Complete training programs for molecular and cytogenetic technologists Standard operating procedures for all components of chromosomal analysis, FISH, and microarray testing of different specimen types This volume is a companion to Cytogenetic Abnormalities: Chromosomal, FISH and Microarray-Based Clinical Reporting. The combined volumes give an expansive approach to performing, reporting, and interpreting cytogenetic laboratory testing and the necessary management practices, staff and testing requirements. |
| chromosomal microarray analysis cost: Assessing Genetic Risks Institute of Medicine, Committee on Assessing Genetic Risks, 1994-01-01 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. |
| chromosomal microarray analysis cost: Cytogenomics Thomas Liehr, 2021-05-25 Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field |
| chromosomal microarray analysis cost: Reproductive Genetics Sean Kehoe, Lyn Chitty, Tessa Homfray, 2009-11 This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function. |
| chromosomal microarray analysis cost: Andrology Eberhard Nieschlag, Hermann M. Behre, Susan Nieschlag, 2010-01-13 The decade that has passed since publication of the second edition of this textbook has not only witnessed a tremendous increase in knowledge within the ? eld of and- logy, but also seen the ? eld itself achieve a newfound status within the medical p- fession. Knowledge and status have been of mutual bene? t to the ? eld and the growing critical mass of diagnostic and therapeutic possibilities have caused andrology to be recognized as a medical subspecialty in some countries such as Germany, Poland, and Estonia. The European Academy of Andrology (EAA) served as a pacemaker for this development and continues to strive for establishment of andrology as a clinical ? eld. Well-designed curricula and qualifying examinations have contributed to the of? cial recognition of andrology as a speciality. This recognition of the ? eld helps patients with andrological problems to ? nd the specialist they seek. This textbook summarizes the current state of knowledge in the ? eld of andrology. It is a source of knowledge to all those who are or want to become andrologists. In addition, as andrology is clearly an interdisciplinary ? eld, this book may serve as a compendium and source of reference for all those physicians and biologists active in neighboring areas, who want to obtain an overview of andrology and who require information on special problems. The extensive references are timely and up to date. |
| chromosomal microarray analysis cost: Design and Analysis of DNA Microarray Investigations Richard M. Simon, Edward L. Korn, Lisa M. McShane, Michael D. Radmacher, George W. Wright, Yingdong Zhao, 2006-05-09 The analysis of gene expression profile data from DNA micorarray studies are discussed in this book. It provides a review of available methods and presents it in a manner that is intelligible to biologists. It offers an understanding of the design and analysis of experiments utilizing microarrays to benefit scientists. It includes an Appendix tutorial on the use of BRB-ArrayTools and step by step analyses of several major datasets using this software which is available from the National Cancer Institute. |
| chromosomal microarray analysis cost: The AGT Cytogenetics Laboratory Manual Marilyn S. Arsham, Margaret J. Barch, Helen J. Lawce, 2017-04-24 Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting. |
| chromosomal microarray analysis cost: Chromosome Translocation Yu Zhang, 2018-06-28 This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases. The book also introduces the mechanistic studies on chromosome deletions and their implications in cancer, and discusses the mechanisms of regulating chromothripsis, a unique complex type of chromosome translocation. It is a valuable resource for students and researchers alike, providing insights into chromosome translocations and, potentially, other genomic aberrations involved in understanding and curing human diseases. |
| chromosomal microarray analysis cost: Microarray Technology and Its Applications Uwe R. Müller, Dan V. Nicolau, 2006-03-30 Ithasbeenstatedthatourknowledgedoublesevery20years,butthatmaybe an understatement when considering the Life Sciences. A series of discoveries and inventions have propelled our knowledge from the recognition that DNA isthegeneticmaterialtoabasicmolecularunderstandingofourselvesandthe living world around us in less than 50 years. Crucial to this rapid progress was thediscoveryofthedouble-helicalstructureofDNA,whichlaidthefoundation forallhybridizationbasedtechnologies. Thediscoveriesofrestrictionenzymes, ligases, polymerases, combined with key innovations in DNA synthesis and sequencing ushered in the era of biotechnologyas a new science with profound sociological and economic implications that are likely to have a dominating in?uence on the development of our society during this century. Given the process by which science builds on prior knowledge, it is perhaps unfair to single out a few inventions and credit them with having contributed most to thisavalancheofknowledge. Yet,therearesurelysomethatwillberecognized as having had a more profound impact than others, not just in the furthering of our scienti?c knowledge, but by leveraging commercial applications that provide a tangible return to our society. The now famous Polymerase Chain Reaction, or PCR, is surely one of those, as it has uniquely catalyzed molecular biology during the past 20 years, and continues to have a signi?cant impact on all areas that involve nucleic acids, ranging from molecular pathology to forensics. Ten years ago micro- ray technology emerged as a new and powerful tool to study nucleic acid - quences in a highly multiplexed manner, and has since found equally exciting and useful applications in the study of proteins, metabolites, toxins, viruses, whole cells and even tissues. |
| chromosomal microarray analysis cost: Genome Data Analysis Ju Han Kim, 2019-04-30 This textbook describes recent advances in genomics and bioinformatics and provides numerous examples of genome data analysis that illustrate its relevance to real world problems and will improve the reader’s bioinformatics skills. Basic data preprocessing with normalization and filtering, primary pattern analysis, and machine learning algorithms using R and Python are demonstrated for gene-expression microarrays, genotyping microarrays, next-generation sequencing data, epigenomic data, and biological network and semantic analyses. In addition, detailed attention is devoted to integrative genomic data analysis, including multivariate data projection, gene-metabolic pathway mapping, automated biomolecular annotation, text mining of factual and literature databases, and integrated management of biomolecular databases. The textbook is primarily intended for life scientists, medical scientists, statisticians, data processing researchers, engineers, and other beginners in bioinformatics who are experiencing difficulty in approaching the field. However, it will also serve as a simple guideline for experts unfamiliar with the new, developing subfield of genomic analysis within bioinformatics. |
| chromosomal microarray analysis cost: Pediatric Board Study Guide Osama Naga, 2015-03-27 Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam. |
| chromosomal microarray analysis cost: Pediatric Epilepsy Michael Duchowny, Helen Cross, Alexis Arzimanoglou, 2012-09-07 Market: Neurologists and pediatricians Diagnostic and treatment algorithms appear throughout Includes sections on comorbidities and monotherapy vs. polytherapy |
| chromosomal microarray analysis cost: Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment National Research Council, Division on Earth and Life Studies, Board on Life Sciences, Board on Environmental Studies and Toxicology, Committee on Applications of Toxicogenomic Technologies to Predictive Toxicology, 2007-12-19 The new field of toxicogenomics presents a potentially powerful set of tools to better understand the health effects of exposures to toxicants in the environment. At the request of the National Institute of Environmental Health Sciences, the National Research Council assembled a committee to identify the benefits of toxicogenomics, the challenges to achieving them, and potential approaches to overcoming such challenges. The report concludes that realizing the potential of toxicogenomics to improve public health decisions will require a concerted effort to generate data, make use of existing data, and study data in new waysâ€an effort requiring funding, interagency coordination, and data management strategies. |
| chromosomal microarray analysis cost: Evolution of Translational Omics Institute of Medicine, Board on Health Sciences Policy, Board on Health Care Services, Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials, 2012-09-13 Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials. |
| chromosomal microarray analysis cost: Endocrine Conditions in Pediatrics Takara Stanley, Madhusmita Misra, 2020-09-25 This book is aimed at primary care providers who care for the pediatric age group (general pediatrician, the PCP working with pediatric patients, and family medicine providers) with the goal of covering the endocrine differential diagnosis of common signs and symptoms of possible endocrine disease as well as appropriate initial laboratory evaluation and interpretation. While multiple pediatric endocrine textbooks exist, most of them are heavy in coverage of physiology and rare diseases, with less discussion of practical steps in evaluation and diagnosis. This book distinguishes itself through a very practical approach. The first section is organized by presenting signs and symptoms, the second section is organized by laboratory interpretation, and the third section provides summaries of common pediatric endocrine disorders. Chapters are concise, providing critical clinical information including clinical pearls, common diagnoses and important points in patient counseling. Written by experts in the field, Endocrine Conditions in Pediatrics is a valuable resource that provides general pediatricians and other primary care providers with all of the information they need to provide superb patient care before transferring to a pediatric endocrinologist when necessary. |
| chromosomal microarray analysis cost: Genetics of Endocrine Diseases and Syndromes Peter Igaz, Attila Patócs, 2019-10-06 This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field. |
| chromosomal microarray analysis cost: Genomic Disorders James R. Lupski, Pawel T. Stankiewicz, 2007-11-10 A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection. |
| chromosomal microarray analysis cost: The Principles of Clinical Cytogenetics Steven L. Gersen, Martha B. Keagle, 1999-03-17 Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients. |
| chromosomal microarray analysis cost: ISCN 2013 International Standing Committee on Human Cytogenetic Nomenclature, 2013 This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature. |
| chromosomal microarray analysis cost: Clinical Genome Sequencing Aad Tibben, Barbara B. Biesecker, 2019-04-03 Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. |
| chromosomal microarray analysis cost: Genetics, Health, and Society Brea L. Perry, 2015-07-16 This volume focuses on critical issues surrounding the intersection of genetics, health, and society. It provides a critical examination of sociological and biomedical approaches to genomics, including strengths and limitations of each perspective. |
| chromosomal microarray analysis cost: Advances in Vision Research, Volume III Gyan Prakash, Takeshi Iwata, 2021-02-18 This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book’s editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases around the globe. |
| chromosomal microarray analysis cost: Childhood Acute Lymphoblastic Leukemia Ajay Vora, 2017-04-21 This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia. |
| chromosomal microarray analysis cost: Small Molecule Microarrays: Methods and Protocols Mahesh Uttamchandani, Shao Q. Yao, 2018-12-05 |
| chromosomal microarray analysis cost: Cell Biology by the Numbers Ron Milo, Rob Phillips, 2015-12-07 A Top 25 CHOICE 2016 Title, and recipient of the CHOICE Outstanding Academic Title (OAT) Award. How much energy is released in ATP hydrolysis? How many mRNAs are in a cell? How genetically similar are two random people? What is faster, transcription or translation?Cell Biology by the Numbers explores these questions and dozens of others provid |
| chromosomal microarray analysis cost: Prenatal Screening and Diagnosis, An Issue of the Clinics in Laboratory Medicine Anthony O. Odibo, David A. Krantz, 2016-06-11 This issue of Clinics in Laboratory Medicine, edited by Drs. Anthony Odibo and David A. Krantz, covers issues surrounding Prenatal Screening and Diagnosis. Topics examined in this issue include, but are not limited to: Strategies for Implementing cfDNA Testing; Genetic Counselling for Patients Considering Screening and Diagnosis of Chromosomal Abnormalities; Microdeletions/Duplications; Sex Chromosome Abnormalities; First-, Second- and Third-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction; Biophysicial/Biochemical Screening for the Risk of Preterm Labor; Preimplantation Genetic Testing; Toxoplasmosis, Parvovirus and Cytomegalovirus in Pregnancy; and Sleep Apnea and Adverse pregnancy Outcomes. |
| chromosomal microarray analysis cost: Fetal Anomalies Kuldeep Singh, 2008 The aim of this mini atlas is to make anomaly scanning a simple procedure. The short and precise information with details of identifying the lesion help in viewing the fetus as a whole rather than a particular fetal system or organ. There is extensive coverage of both normal and abnormal anomalies. The normal values, measurement methodology and reporting featured in the appendices give an excellent succinct overview of the parameters to bear in mind when viewing the images. In brief this is an excellent pocket reference for anyone involved in obstetric ultrasound. |
| chromosomal microarray analysis cost: Health Economics from Theory to Practice Simon Eckermann, 2017-03-20 This book provides a robust set of health economic principles and methods to inform societal decisions in relation to research, reimbursement and regulation (pricing and monitoring of performance in practice). We provide a theoretical and practical framework that navigates to avoid common biases and suboptimal outcomes observed in recent and current practice of health economic analysis, as opposed to claiming to be comprehensive in covering all methods. Our aim is to facilitate efficient health system decision making processes in research, reimbursement and regulation, which promote constrained optimisation of community outcomes from a societal perspective given resource constraints, available technology and processes of technology assessment. Importantly, this includes identifying an efficient process to maximize the potential that arises from research and pricing in relation to existing technology under uncertainty, given current evidence and associated opportunity costs of investment. Principles and methods are identified and illustrated across health promotion, prevention and palliative care settings as well as treatment settings. Health policy implications are also highlighted. |
| chromosomal microarray analysis cost: Molecular Microbiology David H. Persing, Fred C. Tenover, Randall T. Hayden, Margareta Ieven, Melissa B. Miller, Frederick S. Nolte, Yi-Wei Tang, Alex van Belkum, 2020-07-24 Presenting the latest molecular diagnostic techniques in one comprehensive volume The molecular diagnostics landscape has changed dramatically since the last edition of Molecular Microbiology: Diagnostic Principles and Practice in 2011. With the spread of molecular testing and the development of new technologies and their opportunities, laboratory professionals and physicians more than ever need a resource to help them navigate this rapidly evolving field. Editors David Persing and Fred Tenover have brought together a team of experienced researchers and diagnosticians to update this third edition comprehensively, to present the latest developments in molecular diagnostics in the support of clinical care and of basic and clinical research, including next-generation sequencing and whole-genome analysis. These updates are provided in an easy-to-read format and supported by a broad range of practical advice, such as determining the appropriate type and quantity of a specimen, releasing and concentrating the targets, and eliminating inhibitors. Molecular Microbiology: Diagnostic Principles and Practice Presents the latest basic scientific theory underlying molecular diagnostics Offers tested and proven applications of molecular diagnostics for the diagnosis of infectious diseases, including point-of-care testing Illustrates and summarizes key concepts and techniques with detailed figures and tables Discusses emerging technologies, including the use of molecular typing methods for real-time tracking of infectious outbreaks and antibiotic resistance Advises on the latest quality control and quality assurance measures Explores the increasing opportunities and capabilities of information technology Molecular Microbiology: Diagnostic Principles and Practice is a textbook for molecular diagnostics courses that can also be used by anyone involved with diagnostic test selection and interpretation. It is also a useful reference for laboratories and as a continuing education resource for physicians. If you are looking for online access to the latest clinical microbiology content, please visit www.wiley.com/learn/clinmicronow. |
| chromosomal microarray analysis cost: Allelopathy Manuel Joaquín Reigosa Roger, Nuria Pedrol, Luís González, 2006 This book provides the reader relevant information about actual knowledge about the process of allelopathy, covering all aspects from the molecular to the ecological level. Special relevance is given to the physiological and ecophysiological aspects of allelopathy. Several ecosystems are studied and methodological considerations are taken into account in several different chapters. The book has been written to be useful both for Ph.D. students and for senior researchers, so the chapters include all necessary information to be read by beginners, but they also include a lot of useful information and discussion for the initiated. |
| chromosomal microarray analysis cost: Perinatal Genetics Mary E Norton, Jeffrey A. Kuller, Lorraine Dugoff, 2019-01-23 Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. - Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. - Contains a chapter on fetal treatment of genetic disorders. - Consolidates today's available information and experience in this important area into one convenient resource. |
| chromosomal microarray analysis cost: Protocols for High-risk Pregnancies John T. Queenan, John C. Hobbins, 1982 |
| chromosomal microarray analysis cost: Prenatal Diagnosis and Screening D. J. H. Brock, C. H. Rodeck, Malcolm Andrew Ferguson-Smith, 1992 Prenatal diagnosis is the most important and fast moving area in obstetrics. This important new title is intended to become the definitive international book on the subject. Features: * Strong editorial team - offering a combination of geneticist and obstetrician * Both editors are of renowned international standing * Expert contributors from the UK, USA, Europe and Australia * Final chapter will summarise the major developments in the field - cross-referenced to and from the relevant chapters * Current, in-depth coverage of prenatal diagnosis |
| chromosomal microarray analysis cost: Gigantism and Acromegaly Constantine A. Stratakis, 2021-06-01 Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review of the molecular biology of gigantism and acromegaly as well as recommended approaches to evaluation and management. Acromegaly is a rare pituitary disorder that slowly changes its adult victim's appearance over time: larger hands and feet, bigger jaw, forehead, nose, and lips. Generally, a benign pituitary tumor is the cause and symptoms of acromegaly can vary from patient to patient, making a diagnosis difficult and prolonging suffering for years. Early detection is key in the management of acromegaly as the pathologic effects of increased growth hormone (GH) production are progressive and can be life-threatening as the result of associated cardiovascular, cerebrovascular, and respiratory disorders and malignancies. - Accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of acromegaly and gigantism - Provides a unique compendium of endocrinology, genetics, clinical diagnosis and therapeutics - Contains contributions from internationally known experts who have treated patients with acromegaly and gigantism |
| chromosomal microarray analysis cost: Thompson & Thompson Genetics and Genomics in Medicine E-Book Ronald Cohn, Stephen Scherer, Ada Hamosh, 2023-07-10 First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over. Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries—such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics—latest technologies, and new diagnoses they are enabling. Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors. Support groups have also assisted to update illustrations featuring beautiful images of those living with genetic conditions. - Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses - Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies - Full-color text, illustrations, updated line diagrams, and clinical photos - End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations - USMLE-style and multiple choice questions - Updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure - New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions - New chapter on Epigenetics - Clearer and more precise terminology, in response to contemporary and evolving guidelines - New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management. |
| chromosomal microarray analysis cost: Cytogenetics Marcelo L. Larramendy, Sonia Soloneski, 2019-05-10 Cytogenetics - Past, Present, and Further Perspectives discusses events that influenced the development of cytogenetics as a specialty within biology, with special attention paid to methodological achievements developed worldwide that have driven the field forward. Improvements to the resolution of chromosome analysis followed closely the introduction of innovative analytical technologies. In that sense, this book reviews and provides a brief account of the structure of chromosomes and stresses the high structural conservation in different species with an emphasis on aspects that require further research. However, it should be kept in mind that the future of cytogenetics will likely depend on improved knowledge of chromosome structure and function. |
| chromosomal microarray analysis cost: Genomic and Personalized Medicine Geoffrey S. Ginsburg, Huntington F Willard, PhD, 2012-11-29 Genomic and Personalized Medicine, Second Edition - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis |
| chromosomal microarray analysis cost: Genetics in Endocrinology John D. Baxter, Shlomo Melmed, Maria I. New, 2002 An extensive body of evidence highlights the crucial importance of endocrine genetics. Examples range from human growth disorders and obesity to cancers of the prostate and breast. A pivotal part of the Modern Endocrinology Series, this book presents major biological studies underlining the significance of data obtained from knock-out mice, as well as from transgenic animals. Gene therapy and laboratory evaluation and screening of genetic endocrine diseases are covered, as are many of the classical endocrine diseases. |
Cost-effectiveness of exome sequencing and chromosom…
This study evaluates the cost-effectiveness of ES somal microarray analysis + exome sequencing, with an incremental cost-in …
Codes: 0212U, 0213U, 0214U, 0215U, 0216U, 0217U, 0218U
Genomic Unity® is the industry’s first comprehensive WGS-based diagnostic test, combining all genomic tests into …
Genomic microarray and whole exome sequencing
Dec 21, 2017 · We identified five eligible studies reporting cost outcomes, all specific to chromosomal microarray …
Cost Effectiveness of Karyotyping, Chromosomal …
For genetic diagnosis of unexplained global developmental delay and intellectual disability, the most cost effective order …
Clinical utility and cost‐effectiveness analysis o…
The incremental cost- effectiveness ratio (ICER) of com-bined testing demonstrated the cost of each informative …
Model Coverage Policy - American Academy of Neuro…
Karyotyping is done by many hospital laboratories and it is available commercially for a cost between $500 …
Chromosome microarray - VCGS
Microarrays are a cheap, fast way of looking at almost the whole genome at the same time. Up until a few years ago …
A microcosting and cost–consequence analysis …
Purpose: Whole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum …
Cost-effectiveness of exome sequencing and chromosomal …
This study evaluates the cost-effectiveness of ES somal microarray analysis + exome sequencing, with an incremental cost-in low-risk pregnancies. effectiveness ratio of $46,383 per quality …
Codes: 0212U, 0213U, 0214U, 0215U, 0216U, 0217U, 0218U
Genomic Unity® is the industry’s first comprehensive WGS-based diagnostic test, combining all genomic tests into one to provide: Improved diagnostic yield, shorter diagnostic odyssey and …
Genomic microarray and whole exome sequencing
Dec 21, 2017 · We identified five eligible studies reporting cost outcomes, all specific to chromosomal microarray testing and diagnostic yield. Costs per array ranged from $271 to …
Cost Effectiveness of Karyotyping, Chromosomal Microarray …
For genetic diagnosis of unexplained global developmental delay and intellectual disability, the most cost effective order of testing is chromosomal microarray analysis (CMA) first and, if …
Clinical utility and cost‐effectiveness analysis of chromosome …
The incremental cost- effectiveness ratio (ICER) of com-bined testing demonstrated the cost of each informative chromosome finding was significantly higher for patients with clinically …
Model Coverage Policy - American Academy of Neurology
Karyotyping is done by many hospital laboratories and it is available commercially for a cost between $500-$700. A new method of testing, the chromosomal microarray, is able to detect …
Chromosome microarray - VCGS
Microarrays are a cheap, fast way of looking at almost the whole genome at the same time. Up until a few years ago looking at chromosomes under a microscope was the only way to …
A microcosting and cost–consequence analysis of clinical …
Purpose: Whole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but …
WHOLE-EXOME SEQUENCING AND CHROMOSOMAL …
Whole-exome sequencing and chromosomal microarray analysis are more expensive up front but are far more effective in making a genetic diagnosis and much less costly
PEDIATRIC / PRENATAL
The combination of the expanded CMA and limited karyotype analysis provides a more comprehensive and cost-efective way to obtain the highest level of CMA information as well as …
Chromosomal Microarray Analysis - Quest Diagnostics
The Power of the ClariSure Oligo-SNP Postnatal Chromosomal Microarray Analysis from Quest Diagnostics e polymorphism (oligo-SNP) array contains over 2.6 million probes and covers …
RapidSure Microarray Brochure.cdr - NCGM India
For parents who are considering Chromosomal Microarray Analysis (CMA) for their child, NCGM offers a cost-effective first-tier testing option that analyzes changes in chromosomes which are …
Chromosomal Microarray Analysis for Intellectual Disabilities1
Microarray testing is widely available and its cost has been steadily declining. It is foreseeable that, as the cost of full exome sequencing comes down, whole exome testing may be the best …
Cost-effectiveness analysis of chromosomal microarray as a …
Abstract Background: Chromosomal microarray (CMA) has been shown to be cost-effective over karyotyping in invasive prenatal diagnosis for pregnancies with fetal ultrasound anomalies.
Chromosomal microarrays: next-generation karyotyping …
The authors conclude that in spite of the increased cost, CMA analysis is superior for providing actionable information, and thus is cost-efective when used for prenatal evaluation of an …
Chromosomal Micro Array (CMA) - MedGenome
What is a Chromosomal Microarray (CMA)? It is a microchip-based testing platform that allows automated analysis of many pieces of DNA at once. CMA analysis offers the capacity to …
Chromosome Microarray Testing (Non-Oncology Conditions)
There are two types of CMA that are used for the detection of chromosomal abnormalities: aCGH and SNP array. These tests analyze multiple sequences of deoxyribonucleic acid (DNA) by …
Microarray as a first genetic test in global developmental …
Aug 16, 2011 · Our analysis yielded two different num-bers: one based on ‘aCGH cost’ as per Signature Genomics’ fees ($1650), and one based on our local experience indicating that the …
The first step towards finding the right answer with …
The combination of the targeted CMA and limited karyotype analysis provides a more comprehensive and cost-efective way to obtain targeted CMA information as well as detection …
The cost-effectiveness of whole genome sequencing in …
The study objective was to compare the healthcare costs and diagnostic yield when WGS is performed as the first‐line test instead of chromosomal microarray analysis (CMA).
