Good Laboratory Practices For Biochemical Genetic Testing And Newborn Screening For Inherited Metabolic Disorders
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Good Laboratory Practices For Biochemical Genetic Testing And Newborn Screening For Inherited Metabolic Disorders
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Author : Diane Bosse
language : en
Publisher:
Release Date : 2012
Good Laboratory Practices For Biochemical Genetic Testing And Newborn Screening For Inherited Metabolic Disorders written by Diane Bosse and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012 with categories.
"Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn screening laboratories. The recommended practices address the benefits of using a quality management system approach, factors to consider before introducing new tests, establishment and verification of test performance specifications, the total laboratory testing process (which consists of the preanalytic, analytic, and postanalytic phases), confidentiality of patient information and test results, and personnel qualifications and responsibilities for laboratory testing for inherited metabolic diseases. These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. These recommendations also are intended as a resource for medical and public health professionals who evaluate laboratory practices, for users of laboratory services to facilitate their collaboration with newborn screening systems and use of biochemical genetic tests, and for standard-setting organizations and professional societies in developing future laboratory quality standards and practice recommendations. This report complements Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions (CDC. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR 2009;58 [No. RR-6]) to provide guidance for ensuring and improving the quality of genetic laboratory services and public health outcomes. Future recommendations for additional areas of genetic testing will be considered on the basis of continued monitoring and evaluation of laboratory practices, technology advancements, and the development of laboratory standards and guidelines." - p. 1
Practical Genetic Counseling For The Laboratory
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Author : McKinsey L. Goodenberger
language : en
Publisher: Oxford University Press
Release Date : 2017-02-28
Practical Genetic Counseling For The Laboratory written by McKinsey L. Goodenberger and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-02-28 with Medical categories.
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.
Assessing Genetic Risks
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 1994-01-01
Assessing Genetic Risks written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-01-01 with Medical categories.
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.
Morbidity And Mortality Weekly Report
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Author :
language : en
Publisher:
Release Date : 2012
Morbidity And Mortality Weekly Report written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012 with Diseases categories.
Accurate Results In The Clinical Laboratory
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Author : Amitava Dasgupta
language : en
Publisher: Elsevier
Release Date : 2019-07-20
Accurate Results In The Clinical Laboratory written by Amitava Dasgupta and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-07-20 with Medical categories.
Accurate Results in the Clinical Laboratory: A Guide to Error Detection and Correction, Second Edition, provides a comprehensive review of the factors leading to errors in all areas of clinical laboratory testing. This trusted guide addresses interference issues in all laboratory tests, including patient epigenetics, processes of specimen collection, enzymes and biomarkers. Clinicians and laboratory scientists will both benefit from this reference that applies discussions to both accurate specimen analysis and optimal patient care. Hence, this is the perfect reference for clinical laboratorians, from trainees, to experienced pathologists and directors. Provides comprehensive coverage across endocrine, oncology, hematology, immunohistochemistry, immunology, serology, microbiology, and molecular testing Includes new case studies that highlight clinical relevance and errors to avoid Highlights the best titles published within a variety of medical specialties Reviewed by medical librarians and content specialists, with key selections compiled in their annual list
Chemical Laboratory Safety And Security
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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2016-08-07
Chemical Laboratory Safety And Security written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-08-07 with Science categories.
The U.S. Department of State charged the Academies with the task of producing a protocol for development of standard operating procedures (SOPs) that would serve as a complement to the Chemical Laboratory Safety and Security: A Guide to Prudent Chemical Management and be included with the other materials in the 2010 toolkit. To accomplish this task, a committee with experience and knowledge in good chemical safety and security practices in academic and industrial laboratories with awareness of international standards and regulations was formed. The hope is that this toolkit expansion product will enhance the use of the previous reference book and the accompanying toolkit, especially in developing countries where safety resources are scarce and experience of operators and end-users may be limited.
Biomarkers In Inborn Errors Of Metabolism
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Author : Uttam Garg
language : en
Publisher: Elsevier
Release Date : 2017-06-07
Biomarkers In Inborn Errors Of Metabolism written by Uttam Garg and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-06-07 with Medical categories.
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2015-11-09
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-11-09 with Medical categories.
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
Neonatal Screening For Inborn Errors Of Metabolism
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Author : H. Bickel
language : en
Publisher: Springer
Release Date : 2011-11-15
Neonatal Screening For Inborn Errors Of Metabolism written by H. Bickel and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-11-15 with Medical categories.
Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.
Nutrition Management Of Inherited Metabolic Diseases
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Author : Laurie E. Bernstein
language : en
Publisher: Springer
Release Date : 2015-06-03
Nutrition Management Of Inherited Metabolic Diseases written by Laurie E. Bernstein and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-06-03 with Medical categories.
This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.