{"id":14951,"date":"2024-08-20T16:05:16","date_gmt":"2024-08-20T14:05:16","guid":{"rendered":"https:\/\/hln-genetik.at\/service-directory\/metabolic-disorders\/"},"modified":"2026-05-22T19:25:33","modified_gmt":"2026-05-22T17:25:33","slug":"metabolic-disorders","status":"publish","type":"page","link":"https:\/\/hln-genetik.at\/en\/service-directory\/metabolic-disorders\/","title":{"rendered":"Metabolic disorders"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"14951\" class=\"elementor elementor-14951 elementor-10937\" 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\">Metabolic 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>Hereditary metabolic disorders are genetically determined conditions that affect metabolism. They can lead to an accumulation of toxic substances, energy deficiency, or other metabolic imbalances. <\/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-99dfc10 u-container e-flex e-con-boxed e-con e-parent\" data-id=\"99dfc10\" 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-54bbf79 elementor-widget elementor-widget-heading\" data-id=\"54bbf79\" 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-2fb2a7c elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"2fb2a7c\" 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 (NGS) (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-0f3c80e elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"0f3c80e\" 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-dec267f elementor-widget elementor-widget-text-editor\" data-id=\"dec267f\" 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-1244498 elementor-widget elementor-widget-heading\" data-id=\"1244498\" 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-a6a4d8d elementor-widget elementor-widget-text-editor\" data-id=\"a6a4d8d\" 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-baef041 elementor-widget elementor-widget-text-editor\" data-id=\"baef041\" 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=\"756\"><tbody><tr><td width=\"345\"><strong>INDICATION<\/strong><\/td><td width=\"411\"><strong>ANALYSIS<\/strong><\/td><\/tr><tr><td width=\"345\">Obesity, monogenic<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Alpha-1 antitrypsin (AAT) deficiency<\/td><td width=\"411\">Single-gene analysis (SERPINA1)<\/td><\/tr><tr><td width=\"345\">Citrullinemia<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Cystic fibrosis<\/td><td width=\"411\">Single-gene analysis (CFTR)<\/td><\/tr><tr><td width=\"345\">Fibrinogen deficiency<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Iron metabolism disorders<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Familial hypercholesterolemia<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Fatty acid oxidation disorder<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Glycogen storage disease<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Hemochromatosis<\/td><td width=\"411\">Mutation analysis (HFE (rs1800562 and rs1799945))<\/td><\/tr><tr><td width=\"345\">Hyperparathyroidism<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Hypertriglyceridemia<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Hypothyroidism<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Lysosomal storage disease<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Malignant hyperthermia<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Maturity-onset diabetes of the young (MODY)<\/td><td width=\"411\">Gene panel<\/td><\/tr><tr><td width=\"345\">Fabry disease<\/td><td width=\"411\">Single-gene analysis (GLA)<\/td><\/tr><tr><td width=\"345\">Krabbe disease<\/td><td width=\"411\">Single-gene analysis (GALC)<\/td><\/tr><tr><td width=\"345\">Gilbert syndrome<\/td><td width=\"411\">Single-gene analysis (UGT1A1)<\/td><\/tr><tr><td width=\"345\">Wilson disease<\/td><td width=\"411\">Single-gene analysis (ATP7B)<\/td><\/tr><tr><td width=\"345\">Phenylketonuria (PKU), hyperphenylalaninemia (HPA)<\/td><td width=\"411\">Single-gene analysis (PAH)<\/td><\/tr><tr><td width=\"345\">Porphyria<\/td><td width=\"411\">Gene panel<\/td><\/tr><\/tbody><\/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-a2729d7 elementor-widget elementor-widget-text-editor\" data-id=\"a2729d7\" 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-dfef078 elementor-widget elementor-widget-text-editor\" data-id=\"dfef078\" 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 clinical picture, 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-ecb15b2 elementor-widget elementor-widget-button\" data-id=\"ecb15b2\" 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-14951","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14951","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=14951"}],"version-history":[{"count":1,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14951\/revisions"}],"predecessor-version":[{"id":14952,"href":"https:\/\/hln-genetik.at\/en\/wp-json\/wp\/v2\/pages\/14951\/revisions\/14952"}],"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=14951"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}