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

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.


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.

Publication types

  • Guideline

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics
  • Child
  • Clinical Laboratory Techniques / methods
  • Clinical Laboratory Techniques / standards
  • Clinical Laboratory Techniques / statistics & numerical data
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Gene Dosage / genetics*
  • Genetic Variation
  • Genetics, Medical / methods
  • Genetics, Medical / standards*
  • Genetics, Medical / statistics & numerical data
  • Genome, Human / genetics
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Microarray Analysis / methods
  • Microarray Analysis / standards*
  • Microarray Analysis / statistics & numerical data