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Barker SD , Bale S , Booker J , Buller A , Das S , Friedman K , Godwin AK , Grody WW , Highsmith E , Kant JA , Lyon E , Mao R , Monaghan KG , Payne DA , Pratt VM , Schrijver I , Shrimpton AE , Spector E , Telatar M , Toji L , Weck K , Zehnbauer B , Kalman LV
Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing
J Mol Diagn. 2009 Nov;11(6) :553-561
PMID: 19767587    PMCID: PMC2765754    URL: https://www.ncbi.nlm.nih.gov/pubmed/19767587
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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 he found on the GeT-RM website. (J Mol Diagn 2009, 11:553-561; DOI: 10.2353/jmoldx.2009.090078)
Barker, Shannon D. Bale, Sherri Booker, Jessica Buller, Arlene Das, Soma Friedman, Kenneth Godwin, Andrew K. Grody, Wayne W. Highsmith, Edward Kant, Jeffery A. Lyon, Elaine Mao, Rong Monaghan, Kristin G. Payne, Deborah A. Pratt, Victoria M. Schrijver, Iris Shrimpton, Antony E. Spector, Elaine Telatar, Milhan Toji, Lorraine Weck, Karen Zehnbauer, Barbara Kalman, Lisa V. Association for Prevention Teaching and Research ; Centers for Disease Control and Prevention [U50/CCU300860]; Ovarian Cancer SPORE at Fox Chase Cancer Center [P50 CA083638] Supported by a cooperative agreement between the Association for Prevention Teaching and Research and the Centers for Disease Control and Prevention (award number U50/CCU300860); and the Ovarian Cancer SPORE at Fox Chase Cancer Center (P50 CA083638). 51 Amer soc investigative pathology, inc; 9650 rockville pike, bethesda, md 20814-3993 usa 518hk