{"id":14991,"date":"2024-08-20T16:03:31","date_gmt":"2024-08-20T14:03:31","guid":{"rendered":"https:\/\/hln-genetik.at\/service-directory\/skeletal-disorders\/"},"modified":"2026-05-22T19:27:32","modified_gmt":"2026-05-22T17:27:32","slug":"skeletal-disorders","status":"publish","type":"page","link":"https:\/\/hln-genetik.at\/en\/service-directory\/skeletal-disorders\/","title":{"rendered":"Skeletal disorders"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"14991\" class=\"elementor elementor-14991 elementor-10932\" 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\">Skeletal disorders<\/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<p>Hereditary skeletal disorders are genetically determined conditions that affect the growth and structure of the skeleton. They can lead to short or tall stature, joint contractures, premature ossification of the cranial sutures, or brittle bones, as in osteogenesis imperfecta. <\/p>\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-24ca53b u-container e-flex e-con-boxed e-con e-parent\" data-id=\"24ca53b\" 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-4ac310e elementor-widget elementor-widget-heading\" data-id=\"4ac310e\" 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-9524c5f elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"9524c5f\" 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\">Test method: next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics by 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-d4c88e1 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"d4c88e1\" 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\">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-e62eb74 elementor-widget elementor-widget-text-editor\" data-id=\"e62eb74\" 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-7c029a9 elementor-widget elementor-widget-heading\" data-id=\"7c029a9\" 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-40c923b elementor-widget elementor-widget-text-editor\" data-id=\"40c923b\" 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 table below presents our indication-specific testing services in this area:<\/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-e53b6db elementor-widget elementor-widget-text-editor\" data-id=\"e53b6db\" 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>Achondroplasia<\/td>\n<td>Single-gene analysis (FGFR3)<\/td>\n<\/tr>\n<tr>\n<td>Arthrogryposis<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Tall stature<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Hypochondroplasia<\/td>\n<td>Single-gene analysis (FGFR3)<\/td>\n<\/tr>\n<tr>\n<td>Short stature<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Short stature, SHOX-associated<\/td>\n<td>Single-gene analysis (SHOX)<\/td>\n<\/tr>\n<tr>\n<td>Craniosynostosis<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Osteogenesis imperfecta<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Osteoporosis<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Skeletal dysplasias<\/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-10d6096 e-con-full e-flex e-con e-child\" data-id=\"10d6096\" 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-b5b50a8 elementor-widget elementor-widget-text-editor\" data-id=\"b5b50a8\" 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 examined 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>, the <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, as well as the entries in <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-f209aca elementor-widget elementor-widget-text-editor\" data-id=\"f209aca\" 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 is a complex syndromic condition, it is possible to request <a href=\"https:\/\/hln-genetik.at\/en\/service-directory\/exome-analysis\/\">exome sequencing<\/a> based on phenotypic features.<\/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-460d2a0 elementor-widget elementor-widget-button\" data-id=\"460d2a0\" 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-14991","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14991","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=14991"}],"version-history":[{"count":1,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14991\/revisions"}],"predecessor-version":[{"id":14992,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14991\/revisions\/14992"}],"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=14991"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}