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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 GuidelinesOpen Archive
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
Genetics in MedicineVol. 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: 219Microarray 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. - ACMG Policy StatementOpen Archive
Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization
Genetics in MedicineVol. 13Issue 7p667–675Published in issue: July, 2011- James T. Mascarello
- Betsy. Hirsch
- Hutton M. Kearney
- Rhett P. Ketterling
- Susan B. Olson
- Denise I. Quigley
- and others
Cited in Scopus: 51This updated Section E9 has been incorporated into and supersedes the previous Section E9 in Section E: Clinical Cytogenetics of the 2008 Edition (Revised 02/2007) American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories. This section deals specifically with the standards and guidelines applicable to fluorescence in situ hybridization analysis.
