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

      Genetics in Medicine

      standards, Abnormalities, Multiple, Prenatal Diagnosis, Polymorphism, Single Nucleotide, Oligonucleotide Array Sequence Analysis, genetics, diagnosis, Intellectual Disability, Humans, Genomics, Genetics, Medical, Genetic Testing, Developmental Disabilities, Comparative Genomic Hybridization, Autistic Disorder

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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.

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          Journal
          10.1038/gim.2013.129
          24071793

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