{"id":14993,"date":"2024-08-20T15:58:12","date_gmt":"2024-08-20T13:58:12","guid":{"rendered":"https:\/\/hln-genetik.at\/service-directory\/ocular-diseases\/"},"modified":"2026-05-22T19:27:32","modified_gmt":"2026-05-22T17:27:32","slug":"ocular-diseases","status":"publish","type":"page","link":"https:\/\/hln-genetik.at\/en\/service-directory\/ocular-diseases\/","title":{"rendered":"Ocular Diseases"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"14993\" class=\"elementor elementor-14993 elementor-10916\" 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\">OCULAR 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<p>Genetic testing is increasingly becoming an important tool for determining the causes of hereditary ophthalmological diseases. Currently, more than 100 different genes are known to be associated with ophthalmological diseases, including early-onset cataracts, glaucoma, retinitis pigmentosa, macular dystrophy, Stargardt disease, and Stickler syndrome.  <\/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-30e9060 u-container e-flex e-con-boxed e-con e-parent\" data-id=\"30e9060\" 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-235d9c8 elementor-widget elementor-widget-heading\" data-id=\"235d9c8\" 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-6f8ca8d elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"6f8ca8d\" 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 (NGS)<\/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-a883b32 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"a883b32\" 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-4a2891b elementor-widget elementor-widget-text-editor\" data-id=\"4a2891b\" 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-aa24995 elementor-widget elementor-widget-heading\" data-id=\"aa24995\" 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-e2dad5c elementor-widget elementor-widget-text-editor\" data-id=\"e2dad5c\" 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 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-a57af81 elementor-widget elementor-widget-text-editor\" data-id=\"a57af81\" 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>Achromatopsia<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Duane syndrome<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Familial exudative (vitreo-) retinopathy<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Glaucoma<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Corneal dystrophy<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Cataract<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Congenital myopia<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Congenital stationary night blindness (CSNB)<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Leber congenital amaurosis (LCA)<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Macular dystrophy<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Best disease, vitelliform macular dystrophy<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Stargardt disease<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Retinal dystrophy<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Nystagmus<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Ocular and oculocutaneous albinism<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Oculomotor apraxia (COMA)<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Optic atrophy<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Retinitis pigmentosa<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Septo-optic dysplasia<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Stickler syndrome<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Usher syndrome<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Cone-rod dystrophy<\/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\t\t<div class=\"elementor-element elementor-element-bd28df6 elementor-widget elementor-widget-text-editor\" data-id=\"bd28df6\" 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 <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 the 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-55d3b64 elementor-widget elementor-widget-text-editor\" data-id=\"55d3b64\" 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 presentation, 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-6f539c7 elementor-widget elementor-widget-button\" data-id=\"6f539c7\" 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":14886,"parent":14889,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"inline_featured_image":false,"footnotes":""},"class_list":["post-14993","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14993","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=14993"}],"version-history":[{"count":1,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14993\/revisions"}],"predecessor-version":[{"id":14994,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14993\/revisions\/14994"}],"up":[{"embeddable":true,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14889"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/media\/14886"}],"wp:attachment":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/media?parent=14993"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}