Laboratory Testing for Neurologic Disorders, An Issue of the Clinics in Laboratory Medicine

1st Edition, Volume 40-3 - July 31, 2020
Editor: A. Zara Herskovits
Language: English
Hardback ISBN:
9 7 8 - 0 - 3 2 3 - 7 6 2 6 8 - 7
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 7 6 2 6 9 - 4

This issue of Clinics in Laboratory Medicine, guest edited by Dr. A. Zara Herskovits, will cover Laboratory Testing for Neurologic Disorders. This issue is one of four selected… Read more

Laboratory Testing for Neurologic Disorders, An Issue of the Clinics in Laboratory Medicine

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This issue of Clinics in Laboratory Medicine, guest edited by Dr. A. Zara Herskovits, will cover Laboratory Testing for Neurologic Disorders. This issue is one of four selected each year by our Editor-in-Chief, Dr. Milenko Jovan Tanasijevic. Topics discussed in this issue will include: molecular approach to diagnostic testing for children with developmental delay and congenital anomalies, proteopathic and seeding assays (such as RT-QUIC), genetic testing for ALS and FTD, Diagnostic and prognostic testing for Alzheimer’s disease, confounds in the interpretation of paraneoplastic antibody panels, Review of neurologic disease sendout testing at an academic medical center, development of new diagnostic tests for neurologic disorders, assuring quality in laboratory testing for sendout reference tests, diagnostic testing for patients with spinal muscular atrophy, among others.

Cover image
Title page
Table of Contents
Copyright
Contributors
Forthcoming Issues
Preface
Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting
Key points
Introduction
Types of genetic tests
Clinical approach
Interpretation
Databases
Ethical considerations
Future directions
Summary
Proteopathic Seed Amplification Assays for Neurodegenerative Disorders
Key points
Introduction
Prion seed amplification assays
Seed amplification assays for synucleinopathies
Seed amplification assays for tauopathies
β-Amyloid seed aggregation assays
Huntington disease seed amplification assay
Summary
Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management
Key points
Introduction
Approach to genetic evaluation
The importance of family history
Genetic testing
Limitations and challenges
The importance of a genetic diagnosis
Summary
Diagnostic and Prognostic Laboratory Testing for Alzheimer Disease
Key points
Overview of Alzheimer disease and laboratory-based biomarkers
The genetics of Alzheimer disease
Pathologic heterogeneity and the conundrum of mixed dementia
Commercially available cerebrospinal testing for Alzheimer disease
Issues inherent in commercially available testing for genetic predisposition to Alzheimer disease
Additional experimental biomarkers currently under evaluation
Summary
Confounders in the Interpretation of Paraneoplastic and Neuronal Autoantibody Panels
Key points
Introduction
Detection of autoantibodies: methods
Sensitivity and specificity of antibody detection methods
Clinical concerns with neuronal autoantibody panels
Antibodies with low clinical relevance
Neuronal autoantibodies with high clinical relevance
Clinical scales
Summary
Reference Laboratory Testing for Neurologic Disorders
Key points
Introduction
Methods
Results
Discussion
Summary
The Development of New Diagnostic Tests for Neurologic Disorders in the Commercial Laboratory Environment
Key points
Introduction
Identifying a new test
Identification of novel target antigens
Ready or not?
More is less, less is more
Something’s Lost and Something’s Gained: Seeing Reference Laboratory Quality from Both Sides, Now
Key points
The allure of reference laboratories
Responsibility for quality
Safety risk in all phases of the test cycle
Using checklists and quality metrics to optimize safety in reference laboratory testing
The inestimable value of clinical feedback
Special situations in reference laboratory testing
The critical role of health information technology
Reference laboratory testing governance and oversight
Summary
Diagnostic Testing for Patients with Spinal Muscular Atrophy
Key points
Introduction
Structure of SMN1 and SMN2
Diagnosis of symptomatic patients
Newborn screening
Carrier screening and prenatal diagnosis
Treatment of spinal muscular atrophy
Summary
Cerebrospinal Fluid Testing for Multiple Sclerosis
Key points
Introduction
Intrathecal antibody synthesis
Cerebrospinal fluid diagnostics under development
Antibody-based cerebrospinal fluid diagnostics
Inflammatory markers
Markers of axonal damage and gliosis
Summary and future directions