Addition of H19 ‘Loss of Methylation Testing’ for Beckwith-Wiedemann Syndrome (BWS) Increases the Diagnostic Yield Jochen K. Lennerz, Robert J. Timmerman,

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Addition of H19 ‘Loss of Methylation Testing’ for Beckwith-Wiedemann Syndrome (BWS) Increases the Diagnostic Yield Jochen K. Lennerz, Robert J. Timmerman, Dorothy K. Grange, Michael R. DeBaun, Andrew P. Feinberg, Barbara A. Zehnbauer The Journal of Molecular Diagnostics Volume 12, Issue 5, Pages 576-588 (September 2010) DOI: 10.2353/jmoldx.2010.100005 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Diagnostic algorithm and molecular diagnostic approach in BWS. A: The diagnostic algorithm follows clinical (phenotypic) features and key examples are provided to illustrate the following interrelation: with decreasing clinical suspicion of BWS, the rate of molecular detection decreases; however, clinical variability or specific settings may trigger testing and confirm abnormal methylation in ‘mild phenotypes’ or hemihyperplasia64142434445 (for comprehensive coverage of clinical features see Refs.78910597172737475). As a visual estimate, the detection rates in the validation and practice group are provided (gray background). B: Epigenetic testing and assessment of uniparental disomy (UPD) should be combined, and the required samples are listed. Finally, the interpretation of the test result and institution of tumor surveillance procedures requires clinical correlation and additional diagnostic testing (eg, cytogenetics or CDKN1C sequencing). The Journal of Molecular Diagnostics 2010 12, 576-588DOI: (10.2353/jmoldx.2010.100005) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions