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ACMG technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders (2013) (view source)
Revision as of 16:53, 27 July 2016
, 16:53, 27 July 2016→Results Evaluation and Interpretation
''Constitutional.'' Microarray analysis will inevitably reveal common benign and rare constitutional CNVs. Rare constitutional CNVs should be noted and investigated for clinical significance, e.g., cancer-predisposing gene aberration and/or deletion or duplication associated with a known constitutional syndrome. Evaluation and reporting of constitutional CNVs should follow the guidelines set forth in the American College of Medical Genetics and Genomics Standards and Guidelines for interpretation and reporting of constitutional CNVs.30
''Constitutional.'' Microarray analysis will inevitably reveal common benign and rare constitutional CNVs. Rare constitutional CNVs should be noted and investigated for clinical significance, e.g., cancer-predisposing gene aberration and/or deletion or duplication associated with a known constitutional syndrome. Evaluation and reporting of constitutional CNVs should follow the guidelines set forth in the American College of Medical Genetics and Genomics Standards and Guidelines for interpretation and reporting of constitutional CNVs.30
'''Uncertain clinical significance'''
'''Uncertain clinical significance'''
This category may include CNVs that are not known to be associated with disease but meet the reporting criteria established by the laboratory. A CNV in this category is not clearly pathogenic, and there is insufficient evidence for an unequivocal determination of clinical significance. The laboratory should interpret novel CNVs in light of the available clinical and/or pathological information and current literature. Reporting CNVs of uncertain significance is at the discretion of the laboratory. If reported, they may be categorized as follows:
This category may include CNVs that are not known to be associated with disease but meet the reporting criteria established by the laboratory. A CNV in this category is not clearly pathogenic, and there is insufficient evidence for an unequivocal determination of clinical significance. The laboratory should interpret novel CNVs in light of the available clinical and/or pathological information and current literature. Reporting CNVs of uncertain significance is at the discretion of the laboratory. If reported, they may be categorized as follows: