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

被引：249

作者：

South, Sarah T. ^{[1
,2
]}

Lee, Charles ^{[3
]}

Lamb, Allen N. ^{[1
,2
]}

Higgins, Anne W. ^{[4
,5
]}

Kearney, Hutton M. ^{[6
]}

机构：

[1] ARUP Labs, Salt Lake City, UT USA

[2] Univ Utah, Dept Pathol, Salt Lake City, UT USA

[3] Harvard Univ, Brigham & Womens Hosp, Sch Med, Boston, MA 02115 USA

[4] UMass Mem Med Ctr, Dept Pathol, Worcester, MA USA

[5] Univ Massachusetts, Sch Med, Worcester, MA USA

[6] Mission Hlth, Fullerton Genet Ctr, Asheville, NC USA

来源：

GENETICS IN MEDICINE | 2013年 / 15卷 / 11期

关键词：

constitutional; guidelines; microarray; postnatal; prenatal; standards; COPY NUMBER VARIANTS; MEDICAL GENETICS; AMERICAN-COLLEGE; RESOURCES; ABNORMALITIES; PLATFORMS; DATABASE;

D O I：

10.1038/gim.2013.129

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：901 / 909

页数：9

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