Molecular Diagnostics

Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. This handbook provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting.

* Serves as the definitivereference for molecular pathologists worldwide

* Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics

* Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science

I. Introduction and Methodology  
Quantivative PCR: an introduction
Signal Amplification Methods in Molecular Diagnostics
The Lab-on-a-Chip Approach for Molecular Diagnostics
Nucleic Extraction and Amplification
General Procedures
    
II. Quality Assurance, Regulatory, and Ethical Issues  
Billing and Reimbursement for Molecular Diagnostics
Molecular Pathology and Infectious Diseases
Ethical Considerations in Molecular Diagnostics
Quality Control, Assurance, Identification and Standards
  
III. Genetic Disease  
Molecular Testing for Cystic Fibrosis and CFTR-Related Conditions
Carrier Testing for Neurogenetic Diseases
Hemochromatosis
Standards and Recommendations for Molecular Diagnostic Testing for Huntington Disease, the Autosomal Dominant Spinocerebellar Ataxias, and Friedreich Ataxia
  
IV. Cancer  
The Role of Micro-RNAs in Cancer
Molecular Diagnostics in the Evaluation of Cancer: Modern Concepts and Overview
Gene Expression Analysis for Tumor Profiling GEA for TP
Molecular Diagnostics of Hematopoetic Malignancies
  
V. Infectious Diseases   
Viruses
Hepatic B and C Viruses
Molecular Diagnosis of Cytomegalovirus
Molecular Detection of Multiple Respiratory Viruses

Bacteria
Molecular Methods for Identification and Characterization of Acinetobacter species
Molecular Detection and Surveillance of Healthcare-Associated Infections
Molecular Detection Of Group B Streptococcus
Role of Molecular Techniques in the Epidemiologic Investigation Of Hospital-Acquired Infections
Human Papilloma Virus and its Role in Cervical Carcinoma
  
VI. Specialized Applications of Molecular Testing  
Molecular HLA Typing Methods Used in Clinical Laboratories
Identification through DNA analysis in criminal and family relatedness investigations.

VII. Pharmacogenetics  
Overview of Pharmacogenomics and Applications for the Modern Clinical Laboratory
UDP-Glucuronosyltransferase 1A1 and the Glucuronidation in Oncology Applications and Hyperbilirubinemia
Pharmacogenetics of P-450 Enzymes
Pharmacogenomics of Thiopurine Methyl Transferase (TPMT): Importance in Monitoring of Mercaptopurine/Azathioprine Therapy