Copyright
Elsevier (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 26, 2020 Category: Laboratory Medicine Source Type: research
Contributors
MILENKO JOVAN TANASIJEVIC, MD, MBA (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 26, 2020 Category: Laboratory Medicine Source Type: research
Contents
A. Zara Herskovits (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 26, 2020 Category: Laboratory Medicine Source Type: research
Forthcoming Issues
Current Issues in Clinical Microbiology (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 26, 2020 Category: Laboratory Medicine Source Type: research
Reference Laboratory Testing for Neurologic Disorders
Laboratory testing plays a critical role in the diagnosis and monitoring of patients with neurologic disorders. Although common tests are often performed in a central hospital laboratory, an increasing number of essential but esoteric tests are performed at reference laboratories or other outside health care facilities. In this article, we analyze recent trends in neurologic disease testing within the overall context of reference laboratory testing and discuss strategies to facilitate the provision of high-quality, cost-effective laboratory services. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 8, 2020 Category: Laboratory Medicine Authors: A. Zara Herskovits, Loren J. Joseph Source Type: research
Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting
Progress in medical genetics has changed the practice of medicine in general and child neurology in particular. A genetic diagnosis has become critically important in determining optimal management of many neurodevelopmental disorders, making genetic testing a routine consideration of patient care in outpatient and inpatient settings. Today ’s child neurologists should be familiar with various genetic testing modalities and their appropriate use. Molecular genetic testing of children with unexplained developmental delays and/or congenital anomalies has a 20% to 30% chance of identifying a causative etiology. Newer method...
Source: Clinics in Laboratory Medicine - July 2, 2020 Category: Laboratory Medicine Authors: David Joshua Michelson, Robin Dawn Clark Source Type: research
Something ’s Lost and Something’s Gained
Growing regulatory burdens, payment model changes, and increased complexity in laboratory medicine have contributed to an increased reliance on reference laboratories. Although reference laboratories often offer rapid, low cost, high quality testing, outsourcing laboratory tests can create quality and patient safety vulnerabilities particularly in the pre-analytic and post-analytic phases of the test cycle. Disconnects in governance, policy, and information technology between the reference laboratory and the referring provider conspire to increase risk. Laboratory leaders seeking to reduce risk and improve quality must ens...
Source: Clinics in Laboratory Medicine - July 2, 2020 Category: Laboratory Medicine Authors: Yael K. Heher Source Type: research
Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are devastating neurodegenerative disorders that share clinical, pathologic, and genetic features. Persons and families affected by these conditions frequently question why they developed the disease, the expected disease course, treatment options, and the likelihood that family members will be affected. Genetic testing has the potential to answers these important questions. Despite the progress in gene discovery, the offer of genetic testing is not yet “standard of care” in ALS and FTD clinics. The authors review the current genetic landscape and pr...
Source: Clinics in Laboratory Medicine - July 1, 2020 Category: Laboratory Medicine Authors: Jennifer Roggenbuck, Jamie C. Fong Source Type: research
Confounders in the Interpretation of Paraneoplastic and Neuronal Autoantibody Panels
This article provides an overview of neuronal antibody and paraneoplastic panel testing with emphasis on how to differentiate clinically relevant from clinically irrelevant results and the downstream implications of those results. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 1, 2020 Category: Laboratory Medicine Authors: Naveen George, Neel Fotedar, Hesham Abboud Source Type: research
Diagnostic Testing for Patients with Spinal Muscular Atrophy
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. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 1, 2020 Category: Laboratory Medicine Authors: John F. Brandsema, Brianna N. Gross, Susan E. Matesanz Source Type: research
The Development of New Diagnostic Tests for Neurologic Disorders in the Commercial Laboratory Environment
Development of new diagnostic tests in a commercial laboratory for neurologic disorders is challenging. Development occurs in a highly regulated environment. Relevant research infrastructure may not be readily available in-house and may require outsourcing with additional management and costs. Clinically characterized specimens for validation of biomarkers for esoteric diseases may be difficult to acquire, and market size may be difficult to predict. More common diseases with heterogeneous subsets may require better clinical definition. Absence of guidelines may delay health provider acceptance of novel testing. Regulatory...
Source: Clinics in Laboratory Medicine - July 1, 2020 Category: Laboratory Medicine Authors: Iswariya Venkataraman, Stanley J. Naides Source Type: research
Cerebrospinal Fluid Testing for Multiple Sclerosis
Multiple sclerosis is one of the most common autoimmune diseases affecting the central nervous system. Current guidelines characterize multiple sclerosis and related conditions based on clinical, imaging, and body fluid markers. In this review, we describe how laboratory analysis of cerebrospinal fluid is currently performed and discuss new approaches under development for multiple sclerosis diagnostics. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 1, 2020 Category: Laboratory Medicine Authors: Joshua F. Goldsmith, A. Zara Herskovits Source Type: research
Advances in Clinical Laboratory Testing for Neurologic Disorders
The number of cells in the human brain is thought to exceed the number of stars in our galaxy. Due to the tremendous scale and complexity of how brain cells interact, many factors can predispose patients to develop neurologic disease. Fortunately over the past ten years, there has been significant progress in our understanding of how to diagnose and treat patients with these complex disorders. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 1, 2020 Category: Laboratory Medicine Authors: A. Zara Herskovits Tags: Preface Source Type: research
Proteopathic Seed Amplification Assays for Neurodegenerative Disorders
The need for etiological biomarkers for neurodegenerative diseases involving protein aggregation has prompted development of ultrasensitive cellular and cell-free assays based on the prion-like seeding capacity of such aggregates. Among them, prion RT-QuIC assays allow accurate antemortem Creutzfeldt-Jakob disease diagnosis using cerebrospinal fluid and nasal brushings. Analogous assays for synucleinopathies (e.g., Parkinson disease and dementia with Lewy bodies) provide unprecedented diagnostic sensitivity using cerebrospinal fluid. Biosensor cell and tau RT-QuIC assays can detect and discriminate tau aggregates associate...
Source: Clinics in Laboratory Medicine - June 15, 2020 Category: Laboratory Medicine Authors: Nat ália do Carmo Ferreira, Byron Caughey Source Type: research
Enhancing Diagnosis Through RNA Sequencing
The diagnostic rate of comprehensive genomic sequencing remains only 25% to 30% due to the difficulty in interpreting variants of uncertain significance and noncoding mutations and in elucidating downstream effects of these and other genetic changes. Unlike DNA sequencing, RNA sequencing (RNAseq) reveals the functional consequence of genetic variation through the detection of abnormal gene expression levels, differences in gene splicing, and allele-specific expression. RNAseq can provide nearly 40% improvement in diagnostic rates depending on disease and tissue source. In this burgeoning era of precision medicine, RNAseq o...
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: David R. Murdock Source Type: research
