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JMD 2007, Vol. 9, No. 2
Copyright © 2007 American Society for Investigative Pathology & Association for Molecular Pathology

Special Article

Guidance for Fluorescence in Situ Hybridization Testing in Hematologic Disorders

Daynna J. Wolff^*, Adam Bagg, Linda D. Cooley, Gordon W. Dewald, Betsy A. Hirsch^¶, Peter B. Jacky^||, Kathleen W. Rao^**, P. Nagesh Rao the Association for Molecular Pathology Clinical Practice Committee and the American College of Medical Genetics Laboratory Quality Assurance Committee

From the Department of Pathology and Laboratory Medicine, * Medical University of South Carolina, Charleston, South Carolina; the Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; the Pediatrics Section of Medical Genetics, Children’s Mercy Hospital, Kansas City, Missouri; the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; the Department of Laboratory Medicine and Pathology, ^¶ University of Minnesota Medical School, Minneapolis, Minnesota; the Department of Pathology (Genetics), ^|| Northwest Permanente, PC, Portland, Oregon; the Department of Pediatrics, ** University of North Carolina, Chapel Hill, North Carolina; and the Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California

Fluorescence in situ hybridization (FISH) provides an important adjunct to conventional cytogenetics and molecular studies in the evaluation of chromosome abnormalities associated with hematologic malignancies. FISH employs DNA probes and methods that are generally not Food and Drug Administration-approved, and therefore, their use as analyte-specific reagents involves unique pre- and postanalytical requirements. We provide an overview of the technical parameters influencing a reliable FISH result and encourage laboratories to adopt specific procedures and policies in implementing metaphase and interphase FISH testing. A rigorous technologist training program relative to specific types of probes is detailed, as well as guidance for consistent interpretation of findings, including typical and atypical abnormal results. Details are provided on commonly used dual-fusion, extra signal, and break-apart probes, correct FISH nomenclature in the reporting of results, and the use of FISH in relation to other laboratory testing in the ongoing monitoring of disease. This article provides laboratory directors detailed guidance to be used in conjunction with existing regulations to successfully implement a FISH testing program or to assess current practices, allowing for optimal clinical testing for patient care.