x
Filter:
Filters applied
- ACMG Statements and Guidelines
- cytogeneticsRemove cytogenetics filter
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.
5 Results
- ACMG-Practice-GuidelinesOpen Archive
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Genetics in MedicineVol. 12Issue 11p742–745Published in issue: November, 2010- Melanie Manning
- Louanne Hudgins
- for the Professional Practice and Guidelines Committee
Cited in Scopus: 437Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. - ACMG-Standards-and-GuidelinesOpen Archive
Laboratory guideline for Turner syndrome
Genetics in MedicineVol. 12Issue 1p52–55Published in issue: January, 2010- Daynna J. Wolff
- Daniel L. Van Dyke
- Cynthia M. Powell
- A Working Group of the ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 109Turner syndrome is a disorder that has distinct clinical features and has karyotypic aberrations with loss of critical regions of the X chromosome. Several clinical guidelines on the diagnosis and management of patients with Turner syndrome have been published, but there is relatively little on the laboratory aspects associated with this disorder. This disease-specific laboratory guideline provides laboratory guidance for the diagnosis/study of patients with Turner syndrome and its variants. Because the diagnosis of Turner syndrome involves both a clinical and laboratory component, both sets of guidelines are required for the provision of optimal care for patients with Turner syndrome. - 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 Practice GuidelinesOpen Archive
Use of array-based technology in the practice of medical genetics
Genetics in MedicineVol. 9Issue 9p650–653Published in issue: September, 2007- Melanie Manning
- Louanne Hudgins
Cited in Scopus: 33This 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.
