{"id":12789,"date":"2024-07-30T01:43:54","date_gmt":"2024-07-30T08:43:54","guid":{"rendered":"https:\/\/mr66givry2.onrocket.site\/?p=12789"},"modified":"2025-12-31T01:45:25","modified_gmt":"2025-12-31T09:45:25","slug":"american-college-medical-genetics-technical-standard-myotonic-dystrophy-type-1-dm1-testing-2024","status":"publish","type":"post","link":"https:\/\/myotonic.org\/es\/american-college-medical-genetics-technical-standard-myotonic-dystrophy-type-1-dm1-testing-2024\/","title":{"rendered":"American College of Medical Genetics\u2019 Technical Standard: Myotonic Dystrophy Type 1 (DM1) Testing &#8211; 2024 Revision"},"content":{"rendered":"<div>\n<div class=\"date-of-publication\"><a href=\"https:\/\/www.gimjournal.org\/article\/S1098-3600(24)00078-9\/fulltext\" target=\"_blank\" rel=\"noopener\"><strong>ACMG TECHNICAL STANDARD: Myotonic dystrophy type 1 (DM1) testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG); April 2024<\/strong><\/a><\/div>\n<\/div>\n<div>\n<div class=\"clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item\">\n<p>Genet Med. 2024 Jun 3:101145. doi: 10.1016\/j.gim.2024.101145. PMID: 38836869.<\/p>\n<p>The\u00a0<a href=\"https:\/\/www.acmg.net\/\" target=\"_blank\" rel=\"noopener\">American College of Medical Genetics\u2019 (ACMG)<\/a>\u00a0Technical standards are educational resources for clinical laboratory geneticists. This DM1 guideline updates the standards for myotonic dystrophy type 1 (DM1) originally published in 2009 and reaffirmed in 2015.<\/p>\n<p><a href=\"https:\/\/www.myotonic.org\/sites\/default\/files\/2024-07\/2024-ACMG-Technical-Standard-DM1-Testing.pdf\" target=\"_blank\" rel=\"noopener\">Click here to download a PDF of the 2024 revision! &gt;&gt;&gt;<\/a><\/p>\n<p>The current revision:<\/p>\n<ul>\n<li>Updates the methodology section to include triplet repeat-primed polymerase chain reaction (PCR).<\/li>\n<li>Discusses the use of next-generation sequencing (NGS) and its technological limitations for detection of myotonic dystrophy protein kinase (DMPK) CTG expansions.<\/li>\n<li>Adds a section on Human Genome Variation Society (HGVS) nomenclature in accordance with current technical standards.<\/li>\n<li>Discusses the clinical utility of CCG and other interruptions within the DMPK CTG expansion.<\/li>\n<\/ul>\n<p>This document is designed for genetic testing professionals and is not intended as a clinical practice guideline. The guideline summarizes:<\/p>\n<ul>\n<li>DM1 is caused by expansion of CTG repeats in the 3\u2032 UTR of DMPK.<\/li>\n<li>Reduced penetrance and variable expressivity exist within the disorder, largely due to meiotic and mitotic instability of CTG repeats, and genetic anticipation.<\/li>\n<li>Variant repeats with interruptions can affect the ability to accurately detect abnormal alleles and the phenotypic consequence of fully-variable alleles with interruptions remains uncertain.<\/li>\n<li>These technical standards serve as a guide for clinical DM1 testing that should be applied to any methodology used.<\/li>\n<li>Short- read NGS in its current state cannot reliably detect expanded DMPK alleles and is not recommended at this time. Long-read sequencing can detect expanded DMPK alleles and mosaic alleles; however, it is not routinely used in clinical laboratories for detection of expanded repeats.<\/li>\n<li>With advances in TP- PCR, NGS, and other technologies, the approach to testing for DM1 is likely to change as technologies become more advanced in the detection of repeat expansions in DMPK.<\/li>\n<\/ul>\n<p><a href=\"https:\/\/www.myotonic.org\/sites\/default\/files\/2024-07\/2024-ACMG-Technical-Standard-DM1-Testing.pdf\" target=\"_blank\" rel=\"noopener\">Click here to download a PDF of the 2024 revision! &gt;&gt;&gt;<\/a><\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>ACMG TECHNICAL STANDARD: Myotonic dystrophy type 1 (DM1) testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG); April 2024 Genet Med. 2024 Jun 3:101145. doi: 10.1016\/j.gim.2024.101145. PMID: 38836869. The\u00a0American College of Medical Genetics\u2019 (ACMG)\u00a0Technical standards are educational resources for clinical laboratory geneticists. This DM1 guideline updates the standards [&hellip;]<\/p>\n","protected":false},"author":9,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[161],"tags":[],"class_list":["post-12789","post","type-post","status-publish","format-standard","hentry","category-non-classe"],"_links":{"self":[{"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/posts\/12789","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/users\/9"}],"replies":[{"embeddable":true,"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/comments?post=12789"}],"version-history":[{"count":0,"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/posts\/12789\/revisions"}],"wp:attachment":[{"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/media?parent=12789"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/categories?post=12789"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/myotonic.org\/es\/wp-json\/wp\/v2\/tags?post=12789"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}