{"id":14905,"date":"2024-08-14T17:12:12","date_gmt":"2024-08-14T15:12:12","guid":{"rendered":"https:\/\/hln-genetik.at\/service-directory\/connective-tissue-diseases\/"},"modified":"2026-05-22T19:24:47","modified_gmt":"2026-05-22T17:24:47","slug":"connective-tissue-diseases","status":"publish","type":"page","link":"https:\/\/hln-genetik.at\/en\/service-directory\/connective-tissue-diseases\/","title":{"rendered":"Connective tissue diseases"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"14905\" class=\"elementor elementor-14905 elementor-10383\" data-elementor-post-type=\"page\">\n\t\t\t\t<div class=\"elementor-element elementor-element-fe7e95d u-container e-flex e-con-boxed e-con e-parent\" data-id=\"fe7e95d\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-841abf7 e-flex e-con-boxed e-con e-child\" data-id=\"841abf7\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-910d7e9 elementor-widget elementor-widget-heading\" data-id=\"910d7e9\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">Connective tissue diseases<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-d555a20 elementor-widget elementor-widget-text-editor\" data-id=\"d555a20\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"flex max-w-full flex-col flex-grow\">\n<div class=\"min-h-[20px] text-message flex w-full flex-col items-end gap-2 whitespace-pre-wrap break-words [.text-message+&amp;]:mt-5 overflow-x-auto\" dir=\"auto\" data-message-author-role=\"assistant\" data-message-id=\"e6f08f10-84fc-433f-bd9f-97b1db8d1832\">\n<div class=\"flex w-full flex-col gap-1 empty:hidden first:pt-[3px]\">\n<div class=\"markdown prose w-full break-words dark:prose-invert light\">\n<p>Hereditary connective tissue diseases (HCTD) encompass a wide range of inherited disorders with significant clinical and genetic diversity. They are mostly caused by genetic alterations affecting key components of the connective tissue, such as collagen and elastin. Over 200 conditions are classified as HCTD, including Marfan syndrome, cutis laxa, and Ehlers-Danlos syndrome.  <\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-6cbc6b6 u-container e-flex e-con-boxed e-con e-parent\" data-id=\"6cbc6b6\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-b5337dc elementor-widget elementor-widget-heading\" data-id=\"b5337dc\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Request Test<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-302563d elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"302563d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-vial\" viewBox=\"0 0 480 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M477.7 186.1L309.5 18.3c-3.1-3.1-8.2-3.1-11.3 0l-34 33.9c-3.1 3.1-3.1 8.2 0 11.3l11.2 11.1L33 316.5c-38.8 38.7-45.1 102-9.4 143.5 20.6 24 49.5 36 78.4 35.9 26.4 0 52.8-10 72.9-30.1l246.3-245.7 11.2 11.1c3.1 3.1 8.2 3.1 11.3 0l34-33.9c3.1-3 3.1-8.1 0-11.2zM318 256H161l148-147.7 78.5 78.3L318 256z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Sample material: EDTA whole blood<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-microscope\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M160 320h12v16c0 8.84 7.16 16 16 16h40c8.84 0 16-7.16 16-16v-16h12c17.67 0 32-14.33 32-32V64c0-17.67-14.33-32-32-32V16c0-8.84-7.16-16-16-16h-64c-8.84 0-16 7.16-16 16v16c-17.67 0-32 14.33-32 32v224c0 17.67 14.33 32 32 32zm304 128h-1.29C493.24 413.99 512 369.2 512 320c0-105.88-86.12-192-192-192v64c70.58 0 128 57.42 128 128s-57.42 128-128 128H48c-26.51 0-48 21.49-48 48 0 8.84 7.16 16 16 16h480c8.84 0 16-7.16 16-16 0-26.51-21.49-48-48-48zm-360-32h208c4.42 0 8-3.58 8-8v-16c0-4.42-3.58-8-8-8H104c-4.42 0-8 3.58-8 8v16c0 4.42 3.58 8 8 8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Testing method: Next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics via PCR)<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-far-clock\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M256 8C119 8 8 119 8 256s111 248 248 248 248-111 248-248S393 8 256 8zm0 448c-110.5 0-200-89.5-200-200S145.5 56 256 56s200 89.5 200 200-89.5 200-200 200zm61.8-104.4l-84.9-61.7c-3.1-2.3-4.9-5.9-4.9-9.7V116c0-6.6 5.4-12 12-12h32c6.6 0 12 5.4 12 12v141.7l66.8 48.6c5.4 3.9 6.5 11.4 2.6 16.8L334.6 349c-3.9 5.3-11.4 6.5-16.8 2.6z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Turnaround time: from 2 weeks<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-file-alt\" viewBox=\"0 0 384 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M224 136V0H24C10.7 0 0 10.7 0 24v464c0 13.3 10.7 24 24 24h336c13.3 0 24-10.7 24-24V160H248c-13.2 0-24-10.8-24-24zm64 236c0 6.6-5.4 12-12 12H108c-6.6 0-12-5.4-12-12v-8c0-6.6 5.4-12 12-12h168c6.6 0 12 5.4 12 12v8zm0-64c0 6.6-5.4 12-12 12H108c-6.6 0-12-5.4-12-12v-8c0-6.6 5.4-12 12-12h168c6.6 0 12 5.4 12 12v8zm0-72v8c0 6.6-5.4 12-12 12H108c-6.6 0-12-5.4-12-12v-8c0-6.6 5.4-12 12-12h168c6.6 0 12 5.4 12 12zm96-114.1v6.1H256V0h6.1c6.4 0 12.5 2.5 17 7l97.9 98c4.5 4.5 7 10.6 7 16.9z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Required documents: <\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-2b600f5 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"2b600f5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/hln-genetik.at\/wp-content\/uploads\/HLN_Anforderungsformular_Allgemein.pdf\" target=\"_blank\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-download\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M216 0h80c13.3 0 24 10.7 24 24v168h87.7c17.8 0 26.7 21.5 14.1 34.1L269.7 378.3c-7.5 7.5-19.8 7.5-27.3 0L90.1 226.1c-12.6-12.6-3.7-34.1 14.1-34.1H192V24c0-13.3 10.7-24 24-24zm296 376v112c0 13.3-10.7 24-24 24H24c-13.3 0-24-10.7-24-24V376c0-13.3 10.7-24 24-24h146.7l49 49c20.1 20.1 52.5 20.1 72.6 0l49-49H488c13.3 0 24 10.7 24 24zm-124 88c0-11-9-20-20-20s-20 9-20 20 9 20 20 20 20-9 20-20zm64 0c0-11-9-20-20-20s-20 9-20 20 9 20 20 20 20-9 20-20z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Request form<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/hln-genetik.at\/wp-content\/uploads\/HLN_Einverstaendniserklaerung.pdf\" target=\"_blank\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-download\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M216 0h80c13.3 0 24 10.7 24 24v168h87.7c17.8 0 26.7 21.5 14.1 34.1L269.7 378.3c-7.5 7.5-19.8 7.5-27.3 0L90.1 226.1c-12.6-12.6-3.7-34.1 14.1-34.1H192V24c0-13.3 10.7-24 24-24zm296 376v112c0 13.3-10.7 24-24 24H24c-13.3 0-24-10.7-24-24V376c0-13.3 10.7-24 24-24h146.7l49 49c20.1 20.1 52.5 20.1 72.6 0l49-49H488c13.3 0 24 10.7 24 24zm-124 88c0-11-9-20-20-20s-20 9-20 20 9 20 20 20 20-9 20-20zm64 0c0-11-9-20-20-20s-20 9-20 20 9 20 20 20 20-9 20-20z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Informed consent form<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ad68236 elementor-widget elementor-widget-text-editor\" data-id=\"ad68236\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Detailed information on sample submission can be found <a href=\"https:\/\/hln-genetik.at\/en\/sample-submission\/\">here<\/a>.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-02c77d0 elementor-widget elementor-widget-heading\" data-id=\"02c77d0\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\"><span style=\"font-size: var( --e-global-typography-d31e676-font-size );font-weight: var( --e-global-typography-d31e676-font-weight );text-transform: var( --e-global-typography-d31e676-text-transform );text-align: var(--text-align)\">DIAGNOSTIC SERVICES<\/span><\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-d69d5af elementor-widget elementor-widget-text-editor\" data-id=\"d69d5af\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>The following table presents our indication-specific range of tests in this field:<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4ecd5f3 elementor-widget elementor-widget-text-editor\" data-id=\"4ecd5f3\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<table width=\"393\">\n<tbody>\n<tr>\n<td width=\"293\"><strong>INDICATION<\/strong><\/td>\n<td width=\"100\"><strong>ANALYSIS<\/strong><\/td>\n<\/tr>\n<tr>\n<td>Arthrogryposis<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Cutis laxa<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Ehlers-Danlos syndrome (EDS)<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Loeys-Dietz syndrome<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Marfan syndrome<\/td>\n<td>Single gene analysis (FBN1)<\/td>\n<\/tr>\n<tr>\n<td>Stickler syndrome<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Thoracic aortic aneurysms and aortic dissection<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-b2a2bc3 e-con-full e-flex e-con e-child\" data-id=\"b2a2bc3\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c5a95cb elementor-widget elementor-widget-text-editor\" data-id=\"c5a95cb\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>The genes analyzed in the respective gene panels are always based on the current versions of the <a href=\"https:\/\/panelapp.genomicsengland.co.uk\/\" rel=\"nofollow noopener\" target=\"_blank\">Genomics England PanelApp<\/a>, <a href=\"http:\/\/PanelApp Australia\" data-wplink-url-error=\"true\" rel=\"nofollow\">PanelApp Australia<\/a>, the <a href=\"http:\/\/Phenotypic Series\" data-wplink-url-error=\"true\" rel=\"nofollow\">OMIM<\/a> Phenotypic Series, and entries from <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1116\/\" rel=\"nofollow noopener\" target=\"_blank\">GeneReviews<\/a>.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3c07296 elementor-widget elementor-widget-text-editor\" data-id=\"3c07296\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical picture, it is possible to request <a href=\"https:\/\/hln-genetik.at\/en\/service-directory\/exome-analysis\/\">exome sequencing<\/a> based on phenotypic characteristics.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5dd3d54 elementor-widget elementor-widget-button\" data-id=\"5dd3d54\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"https:\/\/hln-genetik.at\/en\/service-directory\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Back<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Analysis of all disease-associated genes<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14889,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"inline_featured_image":false,"footnotes":""},"class_list":["post-14905","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14905","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/comments?post=14905"}],"version-history":[{"count":1,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14905\/revisions"}],"predecessor-version":[{"id":14910,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14905\/revisions\/14910"}],"up":[{"embeddable":true,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14889"}],"wp:attachment":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/media?parent=14905"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}