{"id":7510,"date":"2020-01-17T14:07:34","date_gmt":"2020-01-17T14:07:34","guid":{"rendered":"https:\/\/www.dlongwood.com\/fusionplex-pan-solid-tumor-v2-2\/"},"modified":"2025-05-15T11:31:48","modified_gmt":"2025-05-15T11:31:48","slug":"adellgene-distrofia-miotonica-confirmatorio","status":"publish","type":"productos","link":"https:\/\/www.dlongwood.com\/en\/product-catalog\/adellgene-distrofia-miotonica-confirmatorio\/","title":{"rendered":"Adellgene\u00ae Myotonic Dystrophy Confirmatory"},"content":{"rendered":"\n<p class=\"justificar\">KKit for the determination of the CTG triplet repeats number of the\u00a0<em>DMPK<\/em>\u00a0gene by fluorescent fragment analysis<\/p>\n\n\n\n<p class=\"has-medium-font-size\"><strong>Information about the product<\/strong><\/p>\n\n\n\n<p class=\"justificar\">Myotonic dystrophy type 1 or Steinert\u2019s disease is currently the most common form of muscular dystrophy in adults. Inheritance of this multisystem disease is autosomal dominant, and phenotypic expression is highly variable due to an unstable expansion CTG trinucleotide repeats dystrophia myotonica protein kinase gene (<em>DMPK<\/em>, MIM*605377).<\/p>\n\n\n\n<p class=\"justificar\">There is a correlation between the number of CTG repeats and the age of appearance and severity of symptoms:<\/p>\n\n\n\n<ul class=\"justificar wp-block-list\"><li>Mild phenotype\u00a0(50-100 CTG repeats): associated with clinical manifestations such as mild myotonia or cataracts. The age of appearance for symptoms ranges from 20 to 70 years old.<\/li><li>Classic phenotype\u00a0(100-1000 CTG repeats): patients with this phenotype may present myotonia, baldness, cataracts, cardiac arrhythmias, etc.\u00a0Symptoms appear between 18 and 30 years old.<\/li><li>\u00a0Congenital phenotype\u00a0(>1000 CTG repeats): associated with muscle hypotonia, respiratory distress, intellectual disability, etc. The age of appearance for symptoms ranges from 0 to 18 years old.<\/li><\/ul>\n\n\n\n<p class=\"has-medium-font-size\"><strong>Intended use<\/strong><\/p>\n\n\n\n<p class=\"justificar\">Adellgene\u00ae Myotonic Dystrophy Confirmatory is a semi-automated\u00a0<em>in vitro<\/em>\u00a0diagnostic kit designed for use in clinical laboratories which quantitatively determines the number of repetitions of CTG (cytosine-thymine-guanine) of 3\u00b4UTR region of the\u00a0<em>DMPK<\/em>\u00a0gene located in chromosome 19 resulting in Myoto\u00adnic Dystrophy Type 1 (DM1) disease. It aims to aid diagnosis associated with clinical findings in DM1 that span from mild to severe symptoms.<\/p>\n\n\n\n<p class=\"justificar\">The use of this kit is the confirmation of homozygous and detection of false homozygous for the occurrence of a higher range allele obtainable with Adellgene\u00ae Myotonic Dystrophy Screening kit.<\/p>\n\n\n\n<p class=\"justificar\">The technology is based on the triplet repeat primed polymerase chain reaction (TP-PCR) of genomic DNA extracted from peripheral blood followed by fluorescence analysis of the PCR fragments obtained in a genetic analyzer.<\/p>\n\n\n\n<p class=\"justificar\">Patients who can benefit from this determination are those referred by a specialist. The intended user of the kit is technical personnel trained to carry out the protocol and the interpretation of results described in the instructions for use.<\/p>\n\n\n\n<p class=\"has-medium-font-size\"><strong>Workflow<\/strong><\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"alignleft size-full\"><img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2023\/01\/workflow_adellgene.png\" alt=\"\" class=\"wp-image-14817\" title=\"\"><\/figure><\/div>\n\n\n\n<div style=\"height:34px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-medium-font-size\"><strong>Results<\/strong><\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2023\/01\/Adellgene-Myotonic-Dystrophy-Confirmatory-Sample-with-one-peak-17R-and-one-peak-more-than-200-1024x481.png\" alt=\"\" class=\"wp-image-14889\" width=\"768\" height=\"361\" title=\"\"><\/figure><\/div>\n\n\n\n<p class=\"has-medium-font-size\"><strong>Limitations<\/strong><\/p>\n\n\n\n<ul class=\"justificar wp-block-list\"><li>Mutations (point mutations, insertions, deletions) at amplification primer sites are possible and may result in the lack of allele definition. Other technologies could be necessary to resolve the genotyping.<\/li><li>Data and result interpretation should be revised by qualified personnel.<\/li><\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Kit for the determination of the CTG triplet repeats number of the\u00a0DMPK\u00a0gene by fluorescent fragment analysis<\/p>\n","protected":false},"featured_media":7508,"template":"","tecnologias":[37],"marcas":[225],"familias":[283,444,441],"class_list":["post-7510","productos","type-productos","status-publish","has-post-thumbnail","hentry","tecnologias-fragment-analysis","marcas-blackhills-diagnostic-resources-en","familias-molecular-genetics","familias-neurology","familias-targeted_study_of_specific_pathologies"],"_links":{"self":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/7510","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos"}],"about":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/types\/productos"}],"version-history":[{"count":0,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/7510\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media\/7508"}],"wp:attachment":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media?parent=7510"}],"wp:term":[{"taxonomy":"tecnologias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/tecnologias?post=7510"},{"taxonomy":"marcas","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/marcas?post=7510"},{"taxonomy":"familias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/familias?post=7510"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}