The Experts below are selected from a list of 55392 Experts worldwide ranked by ideXlab platform
H. F. Polesky - One of the best experts on this subject based on the ideXlab platform.
-
Clinical Laboratory Reports in Molecular Pathology
Archives of Pathology & Laboratory Medicine, 2007Co-Authors: Margaret L. Gulley, Rita M. Braziel, Kevin C. Halling, Eric D. Hsi, Jeffrey A. Kant, Marina N. Nikiforova, Jan A. Nowak, Shuji Ogino, Andre Oliveira, H. F. PoleskyAbstract:Abstract Context.—Molecular Pathology is a rapidly growing area of laboratory medicine in which DNA and RNA are analyzed. The recent introduction of array technology has added another layer of complexity involving massive parallel analysis of multiple genes, transcripts, or proteins. Objective.—As Molecular technologies are increasingly implemented in clinical settings, it is important to bring uniformity to the way that test results are reported. Data Sources.—The College of American Pathologists Molecular Pathology Resource Committee members summarize elements that are already common to virtually all Molecular Pathology reports, as set forth in the College of American Pathologists checklists used in the laboratory accreditation process. Consensus recommendations are proposed to improve report format and content, and areas of controversy are discussed. Resources are cited that promote use of proper gene nomenclature and that describe methods for reporting mutations, translocations, microsatellite instability, and other genetic alterations related to inherited disease, cancer, identity testing, microbiology, and pharmacogenetics. Conclusions.—These resources and recommendations provide a framework for composing patient reports to convey Molecular test results and their clinical significance to members of the health care team.
-
Clinical laboratory reports in Molecular Pathology
Archives of pathology & laboratory medicine, 2007Co-Authors: Margaret L. Gulley, Rita M. Braziel, Kevin C. Halling, Eric D. Hsi, Jeffrey A. Kant, Marina N. Nikiforova, Jan A. Nowak, Shuji Ogino, Andre M. Oliveira, H. F. PoleskyAbstract:Abstract Context.—Molecular Pathology is a rapidly growing area of laboratory medicine in which DNA and RNA are analyzed. The recent introduction of array technology has added another layer of complexity involving massive parallel analysis of multiple genes, transcripts, or proteins. Objective.—As Molecular technologies are increasingly implemented in clinical settings, it is important to bring uniformity to the way that test results are reported. Data Sources.—The College of American Pathologists Molecular Pathology Resource Committee members summarize elements that are already common to virtually all Molecular Pathology reports, as set forth in the College of American Pathologists checklists used in the laboratory accreditation process. Consensus recommendations are proposed to improve report format and content, and areas of controversy are discussed. Resources are cited that promote use of proper gene nomenclature and that describe methods for reporting mutations, translocations, microsatellite instabi...
Arthur A B Bergen - One of the best experts on this subject based on the ideXlab platform.
-
ABCC6/MRP6 mutations: further insight into the Molecular Pathology of pseudoxanthoma elasticum
European Journal of Human Genetics, 2003Co-Authors: Astrid Plomp, Jan Wijnholds, Jacoline Ten Brink, Simone Van Soest, L Ingeborgh Van Den Born, Anita Leys, Ron Peek, Paulus T V M De Jong, Arthur A B BergenAbstract:Pseudoxanthoma elasticum (PXE) is a hereditary disease characterized by progressive dystrophic mineralization of the elastic fibres. PXE patients frequently present with skin lesions and visual acuity loss. Recently, we and others showed that PXE is caused by mutations in the ABCC6/MRP6 gene. However, the Molecular Pathology of PXE is complicated by yet unknown factors causing the variable clinical expression of the disease. In addition, the presence of ABCC6/MRP6 pseudogenes and multiple ABCC6/MRP6-associated deletions complicate interpretation of Molecular genetic studies. In this study, we present the mutation spectrum of ABCC6/MRP6 in 59 PXE patients from the Netherlands. We detected 17 different mutations in 65 alleles. The majority of mutations occurred in the NBF1 (nucleotide binding fold) domain, in the eighth cytoplasmatic loop between the 15th and 16th transmembrane regions, and in NBF2 of the predicted ABCC6/MRP6 protein. The R1141X mutation was by far the most common mutation identified in 19 (32.2%) patients. The second most frequent mutation, an intragenic deletion from exon 23 to exon 29 in ABCC6/MRP6, was detected in 11 (18.6%) of the patients. Our data include 11 novel ABCC6/MRP6 mutations, as well as additional segregation data relevant to the Molecular Pathology of PXE in a limited number of patients and families. The consequences of our data for the Molecular Pathology of PXE are discussed.
-
abcc6 mrp6 mutations further insight into the Molecular Pathology of pseudoxanthoma elasticum
European Journal of Human Genetics, 2003Co-Authors: Astrid S Plomp, Jan Wijnholds, Simone Van Soest, Anita Leys, Ron Peek, Paulus T V M De Jong, Jacoline Ten B Brink, Ingeborgh L Van Den Born, Arthur A B BergenAbstract:Pseudoxanthoma elasticum (PXE) is a hereditary disease characterized by progressive dystrophic mineralization of the elastic fibres. PXE patients frequently present with skin lesions and visual acuity loss. Recently, we and others showed that PXE is caused by mutations in the ABCC6/MRP6 gene. However, the Molecular Pathology of PXE is complicated by yet unknown factors causing the variable clinical expression of the disease. In addition, the presence of ABCC6/MRP6 pseudogenes and multiple ABCC6/MRP6-associated deletions complicate interpretation of Molecular genetic studies. In this study, we present the mutation spectrum of ABCC6/MRP6 in 59 PXE patients from the Netherlands. We detected 17 different mutations in 65 alleles. The majority of mutations occurred in the NBF1 (nucleotide binding fold) domain, in the eighth cytoplasmatic loop between the 15th and 16th transmembrane regions, and in NBF2 of the predicted ABCC6/MRP6 protein. The R1141X mutation was by far the most common mutation identified in 19 (32.2%) patients. The second most frequent mutation, an intragenic deletion from exon 23 to exon 29 in ABCC6/MRP6, was detected in 11 (18.6%) of the patients. Our data include 11 novel ABCC6/MRP6 mutations, as well as additional segregation data relevant to the Molecular Pathology of PXE in a limited number of patients and families. The consequences of our data for the Molecular Pathology of PXE are discussed.
Karen E. Weck - One of the best experts on this subject based on the ideXlab platform.
-
Certification in Molecular Pathology in the United States: an update from the Association for Molecular Pathology Training and Education Committee.
The Journal of molecular diagnostics : JMD, 2012Co-Authors: Alexander C. Mackinnon, Y. Lynn Wang, Amrik Sahota, Cecilia C. Yeung, Karen E. WeckAbstract:The past 25 years have witnessed the field of Molecular Pathology evolving from an imprecisely defined discipline to a firmly established medical subspecialty that plays an essential role in patient care. During this time, the training, certification, and licensure requirements for directing and performing testing in a Molecular Pathology or Molecular diagnostics laboratory have become better defined. The purpose of this document is to describe the various board certifications available to individuals seeking certification in Molecular diagnostics at the level of laboratory director, supervisor, or technologist. Several national organizations offer certification in Molecular Pathology or Molecular diagnostics for doctoral-level clinical scientists to function as the director of a Molecular diagnostics laboratory. Furthermore, 12 states and Puerto Rico require licensing of medical technologists, including those working in Molecular diagnostic laboratories. The information provided here updates a 2002 document by the Training and Education Committee of the Association for Molecular Pathology and has been expanded to include certification and licensing requirements for laboratory technologists.
-
Certification in Molecular Pathology in the United States (training and education committee, the association for Molecular Pathology)
The Journal of molecular diagnostics : JMD, 2002Co-Authors: Anthony A. Killeen, Wai Choi Leung, Deborah A. Payne, Daniel E. Sabath, Karen Snow, Gregory J. Tsongalis, Vivianna M. Van Deerlin, Karen E. WeckAbstract:Training in Molecular Pathology in the United States is undergoing development toward a more structured format involving accreditation of training programs and the availability of recognized professional credentials. The traditional apprenticeship for Molecular Pathology, composed of experience in a Molecular biology laboratory with a strong research focus is being replaced by formal training in residency, fellowship, and other postdoctoral training programs that have a clinical focus. This is a reflection of increasing importance of this field to clinical practice, and to a growing desire of persons interested in Molecular Pathology to undertake formal training programs. These developments are bringing Molecular Pathology in line with other clinical laboratory specialties for which structured training and certification have long been the norm. An important measure of educational achievement is success in professional examinations leading to recognized credentials. These credentials should attest to the holder’s professional competence as a practitioner in the field and are frequently used for this purpose by licensing and other regulatory agencies. In the past decade, and especially in the last 5 years, a number of routes for certification in Molecular Pathology by examination have been offered by nationally recognized credentialing agencies. This paper provides an update on these certification routes reflective of the growing interest in Molecular Pathology education. The principal Boards that offer certification in the United States are the American Board of Pathology, the American Board of Medical Genetics, the American Board for Clinical Chemistry, the National Credentialing Agency for Laboratory Personnel, and the American Board of Bioanalysis. The American Board of Medical Genetics offered a combined examination in Clinical Molecular Genetics and Clinical Biochemical Genetics in 1990 and has offered an examination in Clinical Molecular Genetics alone since 1993. Because of the overlap between Molecular genetics and Molecular Pathology, we have included this examination in this listing. The information provided here is intended to summarize the requirements for these exams. Complete requirements are available from the boards listed here.
Jeffrey A. Kant - One of the best experts on this subject based on the ideXlab platform.
-
Clinical Laboratory Reports in Molecular Pathology
Archives of Pathology & Laboratory Medicine, 2007Co-Authors: Margaret L. Gulley, Rita M. Braziel, Kevin C. Halling, Eric D. Hsi, Jeffrey A. Kant, Marina N. Nikiforova, Jan A. Nowak, Shuji Ogino, Andre Oliveira, H. F. PoleskyAbstract:Abstract Context.—Molecular Pathology is a rapidly growing area of laboratory medicine in which DNA and RNA are analyzed. The recent introduction of array technology has added another layer of complexity involving massive parallel analysis of multiple genes, transcripts, or proteins. Objective.—As Molecular technologies are increasingly implemented in clinical settings, it is important to bring uniformity to the way that test results are reported. Data Sources.—The College of American Pathologists Molecular Pathology Resource Committee members summarize elements that are already common to virtually all Molecular Pathology reports, as set forth in the College of American Pathologists checklists used in the laboratory accreditation process. Consensus recommendations are proposed to improve report format and content, and areas of controversy are discussed. Resources are cited that promote use of proper gene nomenclature and that describe methods for reporting mutations, translocations, microsatellite instability, and other genetic alterations related to inherited disease, cancer, identity testing, microbiology, and pharmacogenetics. Conclusions.—These resources and recommendations provide a framework for composing patient reports to convey Molecular test results and their clinical significance to members of the health care team.
-
Clinical laboratory reports in Molecular Pathology
Archives of pathology & laboratory medicine, 2007Co-Authors: Margaret L. Gulley, Rita M. Braziel, Kevin C. Halling, Eric D. Hsi, Jeffrey A. Kant, Marina N. Nikiforova, Jan A. Nowak, Shuji Ogino, Andre M. Oliveira, H. F. PoleskyAbstract:Abstract Context.—Molecular Pathology is a rapidly growing area of laboratory medicine in which DNA and RNA are analyzed. The recent introduction of array technology has added another layer of complexity involving massive parallel analysis of multiple genes, transcripts, or proteins. Objective.—As Molecular technologies are increasingly implemented in clinical settings, it is important to bring uniformity to the way that test results are reported. Data Sources.—The College of American Pathologists Molecular Pathology Resource Committee members summarize elements that are already common to virtually all Molecular Pathology reports, as set forth in the College of American Pathologists checklists used in the laboratory accreditation process. Consensus recommendations are proposed to improve report format and content, and areas of controversy are discussed. Resources are cited that promote use of proper gene nomenclature and that describe methods for reporting mutations, translocations, microsatellite instabi...
-
Goals and objectives for Molecular Pathology education in residency programs
The Journal of molecular diagnostics : JMD, 1999Co-Authors: Thomas M. Williams, Jeffrey A. Kant, Frank R. Burns, Domnita Crisan, J. Steven Dumler, Louis M. Fink, Thomas S. Frank, Timothy C. Greiner, Vickie Matthias-hagen, Linda SabatiniAbstract:Increasing knowledge of the Molecular basis of disease and advances in technology for analyzing nucleic acids and gene products are changing Pathology practice. The explosion of information regarding inherited susceptibility to disease is an important aspect of this transformation. Pathology residency programs are incorporating Molecular Pathology education into their curricula to prepare newly trained pathologists for the future, yet little guidance has been available regarding the important components of Molecular Pathology training. We present general goals for Pathology training programs for Molecular Pathology education. These include recommendations to Pathology residents for the acquisition of both basic knowledge in human genetics and Molecular biology and specific skills relevant to microbiology, Molecular oncology, genetics, histocompatibility, and identity determination. The importance of residents gaining facility in integrating data gained via nucleic acid based-technology with other laboratory and clinical information available in the care of patients is emphasized.
Dara L. Aisner - One of the best experts on this subject based on the ideXlab platform.
-
Molecular Pathology economics 101 an overview of Molecular diagnostics coding coverage and reimbursement a report of the association for Molecular Pathology
The Journal of Molecular Diagnostics, 2020Co-Authors: Anthony Sireci, Loren Joseph, Jay Patel, Matthew C Hiemenz, Oana Rosca, Samuel Caughron, Sarah A Thibaultsennett, Tara L Burke, Dara L. AisnerAbstract:Widespread indications for use of Molecular diagnostics in various aspects of clinical medicine have driven proliferation of testing. The rapid adoption and continuous technological evolution of Molecular diagnostics have often strained the development and maintenance of a functional underlying framework of coding, coverage, and reimbursement policies, thereby presenting challenges to various stakeholders, including Molecular professionals, payers, and patients. A multidisciplinary working group convened by the Association for Molecular Pathology Economic Affairs Committee was tasked to describe the complex landscape of Molecular Pathology economics and highlight opportunities for member engagement. In this article, on the basis of review and synthesis of government regulations and procedures, published payer policy documents, peer-reviewed literature, and expert consensus, the Working Group navigates the ecosystem of Molecular Pathology economics in terms of stakeholders, coding systems and processes, coverage policy determination, and pricing mechanisms. The composition and interrelatedness of various working groups and committees are emphasized to highlight the functional underpinnings of the system. Molecular professionals must be conversant in the language and complex inner workings of Molecular Pathology economics to lead successful, viable laboratories and advocate effectively for policy development on their behalf. This overview is provided to be a resource to Molecular professionals as they navigate the reimbursement landscape.
-
A Suggested Molecular Pathology Curriculum for Residents: A Report of the Association for Molecular Pathology.
The Journal of Molecular Diagnostics, 2016Co-Authors: Dara L. Aisner, Anna B. Berry, D. Brian Dawson, Randall T. Hayden, Loren Joseph, Charles E. HillAbstract:Molecular Pathology is an essential element of Pathology training. As more Molecular tests have become available, there is an increasing need for Pathology trainees to receive a strong foundation in Molecular Pathology. Appointed by the Training and Education Committee of the Association for Molecular Pathology, the Molecular Curriculum Task Force has developed a suggested curriculum in Molecular Pathology for residents. The foundations of Molecular Pathology are presented as a series of goals and objectives that residency programs can use to develop their educational programs. As pathologists continue to expand their roles to include regular clinical consultations in the realm of Molecular testing, a strong foundation in Molecular Pathology and genomic medicine has become essential to the practice of Pathology.