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.
Microarray analysis for constitutional cytogenetic abnormalities
This 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.American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
The following are the recommendations of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee, which was convened to assist health care professionals in making decisions regarding cytogenetic diagnostic testing and counseling for mental retardation (MR) and developmental delay (DD). This document reviews available evidence concerning the value of conventional and molecular cytogenetic testing for the identification of chromosomal anomalies that play a role in the etiology of MR/DD, and, based on this evidence, specific recommendations for each method of testing are provided.American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy
Uniparental disomy represents a departure from the usual situation in which one member of each pair of chromosomes (called homologous chromosomes) is normally inherited from each parent. Thus, for each of the 23 pairs of human chromosomes, one is normally inherited from the father and the other from the mother. Uniparental disomy (UPD) is the abnormal situation in which both members of a chromosome pair are inherited from one parent, and the other parent’s chromosome for that pair is missing.1 Uniparental disomy for some chromosomes is without consequence, but for a few chromosomes can result in abnormality in the affected individual through parent-of-origin differences in gene expression.
