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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.
4 Results
- ACMG-Practice-ResourceOpen Archive
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 19Issue 8p845–850Published in issue: August, 2017- Athena M Cherry
- Yassmine M Akkari
- Kimberly M Barr
- Hutton M Kearney
- Nancy C Rose
- Sarah T South
- and others
Cited in Scopus: 23Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource 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. - 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
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Genetics in MedicineVol. 13Issue 7p680–685Published in issue: July, 2011- Hutton M. Kearney
- Erik C. Thorland
- Kerry K. Brown
- Fabiola Quintero-Rivera
- Sarah T. South
- A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee
Cited in Scopus: 680Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. - ACMG Policy Statement and GuidelinesOpen Archive
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
Genetics in MedicineVol. 13Issue 7p676–679Published in issue: July, 2011- Hutton M. Kearney
- Sarah T. South
- Daynna J. Wolff
- Allen Lamb
- Ada Hamosh
- Kathleen W. Rao
- and others
Cited in Scopus: 80Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with developmental delay, intellectual disability, multiple congenital anomalies, and autism, and they are now accepted as a first tier diagnostic test for these indications. As it is not feasible to validate microarray technology that targets the entire genome in the same manner as an assay that targets a specific gene or syndromic region, a new paradigm of validation and regulation is needed to regulate this important diagnostic technology.
