American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown, Fabiola Quintero-Rivera, Sarah T. South

Research output: Contribution to journalArticle

469 Scopus citations

Abstract

Genomic 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. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting.

Original languageEnglish (US)
Pages (from-to)680-685
Number of pages6
JournalGenetics in Medicine
Volume13
Issue number7
DOIs
StatePublished - Jul 1 2011

Keywords

  • CMA
  • CNV
  • aCGH
  • copy number variant
  • microarray

ASJC Scopus subject areas

  • Genetics(clinical)

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