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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
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- ACMG Policy StatementOpen Archive
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Genetics in MedicineVol. 13Issue 7p680–685Published in issue: July, 2011- Hutton M. Kearney
- Erik C. Thorland
- Kerry K. Brown
- Fabiola Quintero-Rivera
- Sarah T. South
- A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee
Cited in Scopus: 690Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation.
