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    ACMG Statements and Guidelines

    These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.

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

      Genetics in Medicine
      Vol. 15Issue 11p901–909Published in issue: November, 2013
      • Sarah T. South
      • Charles Lee
      • Allen N. Lamb
      • Anne W. Higgins
      • Hutton M. Kearney
      • for the Working Group for the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
      Cited in Scopus: 223
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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.
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