Molecular Diagnostics

Part I. Introduction

1. An Historical Perspective on the Clinical Diagnostic Laboratory
Robert E. Moore

Part II. Basic Molecular Biology

2. An Overview of Nucleic Acid Chemistry, Structure, and Function
William B. Coleman

3. Extraction of Nucleic Acids
Paul N. Bogner, Anthony A. Killeen

4. Nucleic Acid Blotting Techniques
Terry Amiss, Sharon Collins Presnell

5. The Polymerase Chain Reaction
William B. Coleman, Gregory J. Tsongalis

6. Bioinformatics
Sharon L. Ricketts

Part III. Molecular Diagnostic Technologies

7. PCR-Based Methods for Mutation Detection
Ian M. Frayling, Emma Monk, Rachel Butler

8. Alternative Methods for Amplified Nucleic Acid Testing
Deborah A. Payne, Laurie E. Sower

9. Electrophoretic Methods for Mutation Detection and DNA Sequencing
W. Edward Highsmith

10. Single-Nucleotide Polymorphisms
Ulrich Broeckel, Martin J. Hessner

11. Microarray Approaches to Gene Expression Analysis
David Neil Hayes, Matthew Meyerson

12. Methods for Analysis of DNA Methylation
Alexander Dobrovic

Part IV. Other Clinical Diagnostic Technologies

13. Flow Cytometry
Joseph A. DiGiuseppe

14. Medical Cytogenetics
Martha B. Keagle

15. Fluorescence In Situ Hybridization
Suneel D. Mundle, Robert J. Koska

16. Immunohistochemistry
John Hunt, Larissa Davydova, Richard W. Cartun, Maria Baiulescu

17. Laser Capture Microdissection
C. Robert Bagnell

Part V. Quality Assurance in the Molecular Diagnostics Laboratory

18. Framework for Quality Assurance in Molecular Diagnostics
Marlene Sabbath-Solitare, Selwyn J. Baptist, Teresita Cuyegkeng Redondo

19. Verification of Molecular Assays
Brent L. Seaton

20. Standards and Standardization of Molecular Diagnostics
John P. Jakupciak, Catherine D. O’Connell

21. Laboratory-Developed Tests in Molecular Diagnostics
Andrea Ferreira-Gonzalez, Carleton T. Garrett

Part VI. Applications of Molecular Diagnostics for Genetic Diseases

22. An Overview of Molecular Genetics
Elaine Weidenhammer, Gregory J. Tsongalis

23. Genetic Basis of Neurologic and Neuromuscular Diseases
Narasimhan Nagan, Christopher J. Klein, D. Brian Dawson, Myra J. Wick, Stephen N. Thibodeau

24. Molecular Mechanisms of Endocrine Disorders
Amy Potter, John A. Phillips

25. Molecular Pathogenesis of Cardiovascular Disease
Alan H. B. Wu

26. Molecular Diagnostics in Coagulation
Enrique Ballesteros

27. Cystic Fibrosis
Eugene H. Lewis, Myra J. Lewis, Jean A. Amos, Gregory J. Tsongalis

28. Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disorders
Martin J. Hessner, Brian R. Curtis

29. Personalized Medicine
Karen McCullough

Part VII. Applications of Molecular Diagnostics for Human Cancers

30. Molecular Pathogenesis of Human Cancer
William B. Coleman, Gregory J. Tsongalis

31. Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer
Ian M. Frayling, Lisa Happerfield, Christopher Mattocks, Kim Oakhill, Mark J. Arends

32. Molecular Genetic Applications to the Diagnosis of Lymphoma
William N. Rezuke, Gregory J. Tsongalis

33. Molecular Genetic Abnormalities in Acute and Chronic Leukemias
Pei Lin, L. Jeffrey Medeiros

Part VIII. Applications of Molecular Diagnostics for Infectious Diseases

34. Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeae

Alexandra Valsamakis

35. Human Papillomavirus
Theresa M. Voytek, Gregory J. Tsongalis

36. Molecular Diagnostics for HIV-1
Angela M. Caliendo, Charles E. Hill

37. Hepatitis C
D. Robert Dufour

38. Cytomegalovirus
Angela M. Caliendo, Nell S. Lurain

Part IX. Applications of Molecular Diagnostics for Identity-Based Testing

39. HLA Typing Using Molecular Methods
John L. Schmitz

40. Molecular Analysis for Forensic Casework and Parentage Testing
Tracey Dawson Cruz

41. Molecular Assessment of Bone Marrow Transplant Engraftment
Jessica K. Booker

42. Use of DNA-Based Identity Testing for Specimen Identification
Andrew Ricci, Gregory J. Tsongalis

Part X. Issues for the Clinical Molecular Pathology Laboratory

43. Genetic Counseling Considerations in Molecular Diagnosis
Myra I. Roche

44. Ethical, Social, and Legal Issues Related to Molecular Genetic Testing
Jennifer L. Herbst, Jon F. Merz

Keywords: Medicine & Public Health, Pathology, Laboratory Medicine, Human Genetics, Microbiology