Elsevier

Genetics in Medicine

Volume 15, Issue 11, November 2013, Pages 901-909
Genetics in Medicine

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

https://doi.org/10.1038/gim.2013.129Get rights and content
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Abstract

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.

Keywords

constitutional
guidelines
microarray
postnatal
prenatal
standards

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