Changes

''Acquired.'' The CNV is a documented clinically significant and/or disease-associated clonal genetic aberration.

''Acquired.'' The CNV is a documented clinically significant and/or disease-associated clonal genetic aberration.

''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.<ref name=Kearney>Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011;13:680–685.</ref>

Collection of the data of CNVs of uncertain significance is encouraged to build a database for intralaboratory reference, for correlation with clinical parameters, and for sharing in publications. The eventual understanding of the clinical significance will depend on accumulation of sufficient information and correlation with clinical features.

Collection of the data of CNVs of uncertain significance is encouraged to build a database for intralaboratory reference, for correlation with clinical parameters, and for sharing in publications. The eventual understanding of the clinical significance will depend on accumulation of sufficient information and correlation with clinical features.

''Uncertain clinical significance, likely constitutional.'' Refer to the American College of Medical Genetics and Genomics Standards and Guidelines for interpretation and reporting of constitutional CNVs.30

''Uncertain clinical significance, likely constitutional.'' Refer to the American College of Medical Genetics and Genomics Standards and Guidelines for interpretation and reporting of constitutional CNVs.<ref name=Kearney></ref>

''Uncertain clinical significance, not otherwise specified.'' A CNV that meets the laboratory parameters for reporting but has no features to categorize it further.

''Uncertain clinical significance, not otherwise specified.'' A CNV that meets the laboratory parameters for reporting but has no features to categorize it further.