Clinics in laboratory medicine
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Diagnostic genetic testing for spinal muscular atrophy is key in establishing early diagnosis for affected individuals. Prenatal carrier testing of parents with subsequent testing of the fetus for homozygous SMN1 gene deletion in those at risk of this autosomal recessive disorder as well as newborn screening can identify the vast majority of affected individuals before the onset of symptoms. Patients presenting symptomatically must be genetically confirmed as soon as possible because targeted treatments are now available that profoundly impact symptoms and improve quality of life.
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The discovery of antineutrophil cytoplasmic antibodies (ANCA) helped establish ANCA-associated vasculitis as a separate and well-defined clinical entity. Its progressive incorporation into the clinical diagnosis algorithms has made ANCA testing a cornerstone immunoassay embedded in the management of ANCA-associated vasculitis. ⋯ ANCA, and proteinase-3 and myeloperoxidase immunoassessment, have undergone iterative rounds of improvement in sensitivity and specificity. This article traces landmarks in the development of ANCA tests, describes common pitfalls arising during ANCA interpretation, and discusses new technologies to improve the future of ANCA testing.
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Universal coverage of basic laboratory services is fundamental to achieving sustainable development goals and attaining health for all. Yet, comprehensive laboratory services are unavailable to large percentages of the global population. ⋯ The package of services includes key interventions, associated devices and technologies, and the requirements for health workforce and infrastructure. These services must be linked to national strategic policies and plans and regulatory and quality assurance processes.
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ISO 15189:2012 requires the use of quality indicators (QIs) to monitor and evaluate all steps of the total testing process, but several difficulties dissuade laboratories from effective and continuous use of QIs in routine practice. An International Federation of Clinical Chemistry and Laboratory Medicine working group addressed this problem and implemented a project to develop a model of QIs to be used in clinical laboratories worldwide to monitor and evaluate all steps of the total testing process, and decrease error rates and improve patient services in laboratory testing. All laboratories are invited, at no cost, to enroll in the project and contribute to harmonized management at the international level.
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Drug addiction as a result of improper use of prescribed and illicit use has been on the increase globally. The effects of such use have implications in the urologic disease space. To this end, Ketamine has been reported to affect urologic function, causing a number of voiding symptoms. It may also confound the differential diagnosis of urologic diseases, such as interstitial cystitis, among others.