Published online before print September 18, 2009

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Journal of Molecular Diagnostics 2009, Vol. 11, No. 6
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.090078

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

Shannon D. Barker^*, Sherri Bale, Jessica Booker, Arlene Buller, Soma Das^¶, Kenneth Friedman^||, Andrew K. Godwin^**, Wayne W. Grody, Edward Highsmith, Jeffery A. Kant, Elaine Lyon^¶¶, Rong Mao^¶¶, Kristin G. Monaghan^||||, Deborah A. Payne^***, Victoria M. Pratt, Iris Schrijver, Antony E. Shrimpton, Elaine Spector^¶¶¶, Milhan Telatar^||||||, Lorraine Toji^****, Karen Weck, Barbara Zehnbauer and Lisa V. Kalman^*

From the Division of Laboratory Systems, * Centers for Disease Control and Prevention, Atlanta, Georgia; GeneDx, Inc., Gaithersburg, Maryland; the Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina; Molecular Genetics, Quest Diagnostics, San Juan Capistrano, California; the Department of Genetics, ^¶ University of Chicago, Chicago, Illinois; LabCorp, ^|| Burlington, North Carolina; the Clinical Molecular Genetics Laboratory, ** Fox Chase Cancer Center, Philadelphia, Pennsylvania; the Divisions of Medical Genetics and Molecular Pathology, University of California, Los Angeles, California; the Department of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota; the Department of Pathology and Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania; the Pathology Department and ARUP Laboratories, ^¶¶ University of Utah, Salt Lake City; the DNA Diagnostic Laboratory, ^|||| Henry Ford Hospital, Detroit, Michigan; the Department of Pathology, *** Southwestern Medical Center, Dallas, Texas; Quest Diagnostics, Nichols Institute, Chantilly, Virginia; the Pathology Department, Stanford University School of Medicine, Stanford, California; the Department of Clinical Pathology, SUNY Upstate Medical University, Syracuse, New York; the Division of Medical Genetics, ^¶¶¶ Department of Pediatrics, University of Colorado School of Medicine, Aurora; Molecular Genetics, ^|||||| Specialty Laboratories, Valencia, California; Coriell Institute for Medical Research, **** Camden, New Jersey; and the Departments of Pathology, Immunology and Pediatrics, Washington University School of Medicine, St. Louis, Missouri

Well-characterized reference materials (RMs) are integral in maintaining clinical laboratory quality assurance for genetic testing. These RMs can be used for quality control, monitoring of test performance, test validation, and proficiency testing of DNA-based genetic tests. To address the need for such materials, the Centers for Disease Control and Prevention established the Genetic Testing Reference Material Coordination Program (GeT-RM), which works with the genetics community to improve public availability of characterized RMs for genetic testing. To date, the GeT-RM program has coordinated the characterization of publicly available genomic DNA RMs for a number of disorders, including cystic fibrosis, Huntington disease, fragile X, and several genetic conditions with relatively high prevalence in the Ashkenazi Jewish population. Genotypic information about a number of other cell lines has been collected and is also available. The present study includes the development and commutability/genotype characterization of 10 DNA samples for clinically relevant mutations or sequence variants in the following genes: MTHFR; SERPINA1; RET; BRCA1; and BRCA2. DNA samples were analyzed by 19 clinical genetic laboratories using a variety of assays and technology platforms. Concordance was 100% for all samples, with no differences observed between laboratories using different methods. All DNA samples are available from Coriell Cell Repositories and characterization information can be found on the GeT-RM website.