American College of Medical Genetics standards and... [Genet Med. 2011] - PubMed result

Genet Med. 2011 Jun 15. [Epub ahead of print]

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee.

Source
From the 1Fullerton Genetics Center, Mission Health System, Asheville, North Carolina; 2Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota; 3Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts; 4Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, California; and 5ARUP Laboratories, Departments of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah.

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.

PMID:21681106[PubMed - as supplied by publisher]
American College of Medical Genetics standards and... [Genet Med. 2011] - PubMed result