{"id":15005,"date":"2024-08-20T13:41:19","date_gmt":"2024-08-20T11:41:19","guid":{"rendered":"https:\/\/hln-genetik.at\/service-directory\/brain-malformations\/"},"modified":"2026-05-22T19:28:03","modified_gmt":"2026-05-22T17:28:03","slug":"brain-malformations","status":"publish","type":"page","link":"https:\/\/hln-genetik.at\/en\/service-directory\/brain-malformations\/","title":{"rendered":"Brain Malformations"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"15005\" class=\"elementor elementor-15005 elementor-10889\" 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\">Brain Malformations<\/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>Brain malformations comprise a group of genetic disorders that significantly affect the development and structure of the brain. These anomalies can include malformations of the cerebellum, an abnormal accumulation of cerebrospinal fluid (hydrocephalus), or variations in head size such as macrocephaly or microcephaly. <\/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-1fa465e u-container e-flex e-con-boxed e-con e-child\" data-id=\"1fa465e\" 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-0cc7d86 elementor-widget elementor-widget-heading\" data-id=\"0cc7d86\" 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-574e2c8 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"574e2c8\" 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-65f8667 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"65f8667\" 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-a4dd499 elementor-widget elementor-widget-text-editor\" data-id=\"a4dd499\" 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-2862a08 elementor-widget elementor-widget-heading\" data-id=\"2862a08\" 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-5dac57a elementor-widget elementor-widget-text-editor\" data-id=\"5dac57a\" 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-c5d7256 elementor-widget elementor-widget-text-editor\" data-id=\"c5d7256\" 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>Cerebellar hypoplasia<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Holoprosencephaly<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Hydrocephalus<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Leukodystrophy and leukoencephalopathy<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Macrocephaly<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Primary microcephaly<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Cerebellar hypoplasia<\/td>\n<td>Gene panel<\/td>\n<\/tr>\n<tr>\n<td>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)<\/td>\n<td>Single gene analysis (NOTCH3)<\/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-5ff6b98 elementor-widget elementor-widget-text-editor\" data-id=\"5ff6b98\" 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, 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-0f82532 elementor-widget elementor-widget-text-editor\" data-id=\"0f82532\" 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-56dbea0 elementor-widget elementor-widget-button\" data-id=\"56dbea0\" 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-15005","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/15005","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=15005"}],"version-history":[{"count":1,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/15005\/revisions"}],"predecessor-version":[{"id":15006,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/15005\/revisions\/15006"}],"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=15005"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}