Fundamentals of Molecular Diagnostics

Fundamentals of Molecular Diagnostics

By David E. Bruns, MD, Professor of Pathology, Director of Clinical Chemistry and Associate Director of Molecular Diagnostics, University of Virginia, Charlottesville, VA, and Editor, Clinical Chemistry, Washington, DC; Edward R. Ashwood, MD, Professor of Pathology, University of Utah, and Laboratory Director, ARUP Laboratories, Salt Lake City, UT; and Carl A. Burtis, PhD, Chief, Clinical Chemistry, Health Division, Oak Ridge National Laboratory, Oak Ridge, TN, and Clinical Professor of Pathology, University of Utah School of Medicine, Salt Lake City, UT


I. Principles

1. Principles of Molecular Biology

2. Genomes and Nucleic Acid Alterations

II. Techniques and Instrumentation

3. Specimen Collection and Processing

4. Nucleic Acid Isolation

5. Nucleic Acid Techniques

6. Miniaturization: DNA Chips and Devices

7. Design and Operation of a Molecular Diagnostics Laboratory

8. Introduction to Evidence-Based Molecular Diagnostics

III. Applications

9. Inherited Diseases

10. Identity Assessment

11. Molecular Methods in Diagnosis and Monitoring of Infectious Diseases

12. Pharmacogenetics

13. Molecular Genetics in Diagnosis of Human Cancers

IV. Appendix

14. Reference Information

Answers to Review Questions

Glossary