{"id":7486,"date":"2019-11-26T13:38:10","date_gmt":"2019-11-26T13:38:10","guid":{"rendered":"https:\/\/www.dlongwood.com\/liquidplex-ctdna-28-2\/"},"modified":"2025-05-15T11:29:58","modified_gmt":"2025-05-15T11:29:58","slug":"adellgene-ataxia-friedreich","status":"publish","type":"productos","link":"https:\/\/www.dlongwood.com\/en\/product-catalog\/adellgene-ataxia-friedreich\/","title":{"rendered":"Adellgene\u00ae Friedreich\u2019s Ataxia"},"content":{"rendered":"\n<p class=\"justificar wp-block-paragraph\">Kit for the determination of the GAA triplet repeats number of the\u00a0<em>FXN<\/em>\u00a0gene by fluorescent fragment analysis.<\/p>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\"><strong>Information about the product<\/strong><\/p>\n\n\n\n<p class=\"justificar wp-block-paragraph\">Friedreich\u2019s ataxia (FRDA) is the most common hereditary ataxia and it\u00b4s an autosomal recessive degenerative disease.<\/p>\n\n\n\n<p class=\"justificar wp-block-paragraph\">The most common DNA abnormality associated with Friedreich\u2019s ataxia (FRDA) is the expansion of a GAA triplet repeat polymorphism localized in the first intron of the gene encoding frataxin (<em>FXN<\/em>). Pathogenic GAA expansion alleles are in the size range of 50 to >1300 repeats with three different intervals:<\/p>\n\n\n\n<ul class=\"justificar wp-block-list\"><li>healthy (between 5-30 repeats),<\/li><li>Mild symptoms (30-49 repeats)<\/li><li>Severe symptoms (50-1300 repeats)<\/li><\/ul>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\"><strong>Intended Use<\/strong><\/p>\n\n\n\n<p class=\"justificar wp-block-paragraph\">Adellgene\u00ae Friedreich\u2019s Ataxia 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 GAA (guanine-adenine-adenine) in the first intron of the gene encoding frataxin (<em>FXN<\/em>) located in chromosome 9 resulting in Frie\u00addreich\u2019s ataxia disease. It aims to aid diagnosis associated with clinical findings in Friedreich\u2019s ataxia that span from mild to severe symptoms.<\/p>\n\n\n\n<p class=\"justificar wp-block-paragraph\">The use of this kit is the determination of healthy alleles who have between 5 to 30 GAA repeats, patients with mild phenotype (30-49 repeats), and severe (50-1300).<\/p>\n\n\n\n<p class=\"justificar wp-block-paragraph\">The technology is based on the polymerase chain reaction (PCR) of genomic DNA extracted from peripheral blood followed by fluorescence analysis of the size of the PCR fragments obtained by genetic analyser and conversion of that size in the number of GAA repeats.<\/p>\n\n\n\n<p class=\"justificar wp-block-paragraph\">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 wp-block-paragraph\"><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 wp-block-paragraph\"><strong>Results<\/strong><\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large\"><img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2023\/01\/Adellgene-Friedreich_s-Ataxia-Reaction-1-healthy-allele-15R-1024x496.png\" alt=\"\" class=\"wp-image-14834\" title=\"\"><\/figure><\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large\"><img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2023\/01\/Adellgene-Friedreich_s-Ataxia-Reaction-2-mutated-allele-more-than-200R-1024x492.png\" alt=\"\" class=\"wp-image-14836\" title=\"\"><\/figure><\/div>\n<\/div>\n<\/div>\n\n\n\n<figure class=\"wp-block-image size-medium\"><img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2023\/01\/Adellgene-Friedreich_s-Ataxia-title-300x39.png\" alt=\"\" class=\"wp-image-14838\" title=\"\"><figcaption><\/figcaption><\/figure>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\"><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>NGS assay to study 28 genes commonly associated with solid tumor type cancers from circulating cell-free tumor DNA (ccfDNA\/cfDNA\/ctDNA).<\/p>\n","protected":false},"featured_media":7484,"template":"","tecnologias":[37],"marcas":[225],"familias":[283,444,441],"class_list":["post-7486","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\/7486","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\/7486\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media\/7484"}],"wp:attachment":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media?parent=7486"}],"wp:term":[{"taxonomy":"tecnologias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/tecnologias?post=7486"},{"taxonomy":"marcas","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/marcas?post=7486"},{"taxonomy":"familias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/familias?post=7486"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}