ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 : Genetics in Medicine : Nature Publishing Group

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 : Genetics in Medicine : Nature Publishing Group

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

• Sarah T. South PhD,
• Charles Lee PhD,
• Allen N. Lamb PhD,
• Anne W. Higgins PhD
• & Hutton M. Kearney PhD
• for the Working Group for the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

• Affiliations
• Corresponding author

Genetics in Medicine

(2013)

doi:10.1038/gim.2013.129

Received

17 July 2013

Accepted

17 July 2013

Published online

26 September 2013

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Abstract

• Abstract•
• References•
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Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism–detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. This technology also has applicability in prenatal specimens. To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines.
Genet Med advance online publication 19 September 2013

Keywords:

constitutional; guidelines; microarray; postnatal; prenatal; standards