ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.
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.
1] ARUP Laboratories, Salt Lake City, Utah, USA [2] Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
Sarah T
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South
Charles
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Allen N
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Lamb
Anne W
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Higgins
Hutton M
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Kearney
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000592:standards*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000592:standards*; D005826:Genetics, Medical; D023281:Genomics / Q000592:standards; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000592:standards*; D020641:Polymorphism, Single Nucleotide; D011296:Prenatal Diagnosis / Q000592:standards*