Molecular Pathology in Clinical Practice

Chapter 1 Basics of Molecular Biology

Deborah Ann Payne

Chapter 2 Molecular Pathology Methods

D. Hunter Best, Shale A. Dames, Whitney Wooderchak-Donahue, Tracey Lewis, Kelli L. Sumner, Cecily P. Vaughn, Rong Mao and Daniel H. Farkas

Part One Section I Genetics

Elaine Lyon, Section Editor

Chapter 3 Genetic Counseling

Christine E. Miller

Chapter 4 Pedigree Analysis and Risk Assessment

Patti Krautscheid and Danielle LaGrave

Chapter 5 Bayesian Analysis

Robert B. Wilson and Shuji Ogino

Chapter 6 Intellectual Disability and Developmental Delay: Cytogenetic Testing

Guangyu Gu, Reha Toydemir, Sarah T. South

Chapter 7 Developmental Delay: Gene Testing

Christin D. Collins, Monica J. Basehore, Kristen J. Champion, Michael J. Friez

Chapter 8 Congenital Disorders of Glycosylation

Melanie A. Jones and Madhuri R. Hegde

Chapter 9 Neuromuscular Diseases

Thomas W. Prior

Chapter 10 Mitochondrial Disorders

Renkui Bai and Jaime D. Higgs

Chapter 11 Metabolic Disorders

Lisa Edelmann, Yaping Yang, Amy C. Yang, Ruth Kornreich

Chapter 12 Fibroblast Growth Factor Receptor and Related Skeletal Disorders

Steven Sperber and Elaine Spector

Chapter 13 Cystic Fibrosis

Lora J.H. Bean and V. M. Pratt

Chapter 14 Deafness

A. Eliot Shearer, Robert W. Eppsteiner, Richard J.H. Smith

Chapter 15 Coagulation Disorders

Rajiv K. Pruthi, Michelle L. Kluge, Aneel A. Ashrani

Chapter 16 Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh Incompatibility

Debra G.B. Leonard, M.D., Ph.D. is Professor, Vice Chair for Laboratory Medicine, Director of the Clinical Laboratories, and Director of the Pathology Residency Training Program in the Department of Pathology and Laboratory Medicine at Weill Cornell Medical College and NewYork-Presbyterian Hospital. As of July 1, 2009, Dr. Leonard was appointed Chief Diversity Officer for Weill Cornell Medical College. She is an expert in molecular diagnostics for genetic, cancer and infectious diseases. Her M.D. and Ph.D. degrees were completed at the New York University School of Medicine, where she also did her postgraduate clinical training in Anatomic Pathology, including a Surgical Pathology Fellowship. She is certified by the American Board of Pathology in Anatomic Pathology, and by the American Boards of Pathology and Medical Genetics in Molecular Genetic Pathology. Currently, Dr. Leonard is a member of the Institute of Medicine Roundtable on Translating Genomic-based Research for Health and Chair of the Diagnostic Applications Working Group of this Roundtable. Dr. Leonard is a past member of the Secretary's Advisory Committee on Genetics Health and Society (SACGHS) to Secretary Michael O. Leavitt, and a past President of the Association for Molecular Pathology. She has spoken widely on various molecular pathology test services, the future of molecular diagnostics and the impact of gene patents on molecular pathology practice and patient access to molecular diagnostic testing services. Most recently, Dr. Leonard was honored by receiving the 2009 Leadership Award from the Association for Molecular Pathology.

"This is an invaluable source of information for all practicing molecular pathologists, medical geneticists, pathology and genetics residents, and molecular pathology fellows. It also will be useful to surgical and clinical pathologists, hematologists, oncologists, internists, scientists who undertake disease-related basic science and translational research, and medical laboratory technologists. ... All chapters are written by pathologists and scientists experienced in the practical applications of clinical molecular pathology tests. ... I highly recommend this as one of the must-have and must-read books." (Michel Nasr, Doody's Book Reviews, June, 2016)