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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.
6 Results
- ACMG Standards and GuidelinesOpen Archive
Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities
Genetics in MedicineVol. 18Issue 6p635–642Published in issue: June, 2016- Fady M. Mikhail
- Nyla A. Heerema
- Kathleen W. Rao
- Rachel D. Burnside
- Athena M. Cherry
- Linda D. Cooley
- and others
Cited in Scopus: 16Disclaimer: These American College of Medical Genetics and Genomics standards and guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily ensure a successful medical outcome. These standards and guidelines 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 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. - 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. - ACMG Standards and GuidelinesOpen Archive
Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities
Genetics in MedicineVol. 11Issue 12p890–897Published in issue: December, 2009- Linda D. Cooley
- James T. Mascarello
- Betsy Hirsch
- Peter B. Jacky
- P. Nagesh Rao
- Debra Saxe
- and others
Cited in Scopus: 3Cytogenetic analysis of tumor tissue detects clonal abnormalities. The information obtained from these studies is utilized for diagnosis, prognosis, and patient management. - ACMG Standards and GuidelinesOpen Archive
Microarray analysis for constitutional cytogenetic abnormalities
Genetics in MedicineVol. 9Issue 9p654–662Published in issue: September, 2007- Lisa G. Shaffer
- Arthur L. Beaudet
- Arthur R. Brothman
- Betsy Hirsch
- Brynn Levy
- Christa Lese Martin
- and others
Cited in Scopus: 62This guideline is designed primarily as an educational resource for health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily ensure a successful medical outcome. This guideline 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. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. - ACMG Standards and GuidelinesOpen Archive
Section E6 of the ACMG technical standards and guidelines: Chromosome studies for acquired abnormalitie: This updated Section E6 has been incorporated into Section E: Clinical Cytogenetics of the 2005 ACMG Standards and Guidelines for Clinical Genetics Laboratories and supersedes the previous section E6
Genetics in MedicineVol. 7Issue 7p509–513Published in issue: September, 2005- Betsy Hirsh
- Arthur R. Brothman
- Peter B. Jacky
- Kathleen W. Rao
- Daynna J. Wolff
Cited in Scopus: 1Disclaimer: These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines 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.
