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.
Response to Righetti et alWe thank Righetti et al1 for their interest in our article titled Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).2 We were pleased to learn that the investigators from the Australian Reproductive Genetic Carrier Screening Project (ARGCSP) are in agreement with many aspects of this practice resource.
Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disordersThis document was retired by the American College of Medical Genetics and Genomics (ACMG) Board of Directors as of May 20, 2019 with the following addendum.
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)The original article can be found online at https://doi.org/10.1038/s41436-019-0686-8 .
Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testingThis is an addendum to the article available online at https://doi.org/10.1038/gim.2012.165 .
Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesAddendum to: Genetics in Medicine 12:742–745 (2010) https://doi.org/10.1097/GIM.0b013e3181f8baad , published online 18 October 2010.
Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardationAddendum to: Genetics in Medicine7:650–654 (2005); https://doi.org/10.1097/01.gim.0000186545.83160.1e , published online 01 November 2005
Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testingAn amendment to this paper has been published and can be accessed via a link at the top of the paper.