{"id":15452,"date":"2021-08-01T16:33:42","date_gmt":"2021-08-01T14:33:42","guid":{"rendered":"https:\/\/genomik-tuebingen.de\/?p=15452"},"modified":"2025-03-07T10:10:31","modified_gmt":"2025-03-07T09:10:31","slug":"pitfalls-in-genetic-diagnostics-why-phenotyping-is-essential","status":"publish","type":"post","link":"https:\/\/cegat.com\/de\/pitfalls-in-genetic-diagnostics-why-phenotyping-is-essential\/","title":{"rendered":"Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential."},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\" style=\"--awb-font-size:24px;\"><p style=\"text-align: justify;\">Gburek-Augustat J<sup>1 2 3<\/sup>, Schoene-Bake JC<sup>2 4<\/sup>, B\u00fcltmann E<sup>5<\/sup>, Haack T<sup>6<\/sup>, Buchert R<sup>6<\/sup>, Synofzik M<sup>7<\/sup>, <strong>Biskup S<\/strong>;<sup>8<\/sup>, Feuerhake F<sup>9<\/sup>, Sorge I<sup>10<\/sup>, Hartmann H<sup>2<\/sup>a<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-two\" style=\"--awb-text-color:var(--awb-custom_color_1);--awb-margin-top-small:10px;--awb-margin-right-small:0px;--awb-margin-bottom-small:10px;--awb-margin-left-small:0px;\"><h2 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"margin:0;text-transform:none;--fontSize:36;line-height:var(--awb-typography1-line-height);\">Abstract<\/h2><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-2\"><p style=\"text-align: justify;\">New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-3 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--link_hover_color: var(--awb-color6);--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-3 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-tabs fusion-tabs-1 classic vertical-tabs icon-position-left mobile-mode-carousel\" style=\"--awb-title-border-radius-top-left:0px;--awb-title-border-radius-top-right:0px;--awb-title-border-radius-bottom-right:0px;--awb-title-border-radius-bottom-left:0px;--awb-title-padding-top:10px;--awb-title-padding-right:50px;--awb-title-padding-bottom:10px;--awb-title-padding-left:50px;--awb-alignment:start;--awb-inactive-color:var(--awb-custom_color_1);--awb-title-text-color:var(--awb-color5);--awb-title-active-text-color:var(--awb-custom_color_1);--awb-background-color:var(--awb-color5);--awb-border-color:rgba(0,0,0,0.06);--awb-active-border-color:var(--awb-color6);\"><div class=\"nav\"><ul class=\"nav-tabs\" role=\"tablist\" aria-orientation=\"vertical\"><li class=\"active\" role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-46028b4fca79d507e98\" aria-selected=\"true\" tabindex=\"0\" id=\"fusion-tab-46028b4fca79d507e98\" href=\"#tab-46028b4fca79d507e98\"><h3 class=\"fusion-tab-heading\">Referenzen<\/h3><\/a><\/li><li  role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-36fbfb3537ab91bde5d\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-36fbfb3537ab91bde5d\" href=\"#tab-36fbfb3537ab91bde5d\"><h3 class=\"fusion-tab-heading\">Autorinnen\/Autoren<\/h3><\/a><\/li><\/ul><\/div><div class=\"tab-content\"><div class=\"tab-pane fade fusion-clearfix in active\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-46028b4fca79d507e98\" id=\"tab-46028b4fca79d507e98\">\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33710525\/\" target=\"_blank\" rel=\"noopener\">Ver\u00f6ffentlichung auf NCBI anschauen<\/a><\/p>\n<p><a href=\"\/de\/diagnostik\/seltene-erkrankungen\/neurodegenerative-erkrankungen\/\" target=\"_blank\" rel=\"noopener\"><span class=\"avia_iconbox_title\">Zu unserem Panel f\u00fcr Neurodegenerative Erkrankungen<\/span><\/a><\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-36fbfb3537ab91bde5d\" id=\"tab-36fbfb3537ab91bde5d\">\n<ol>\n<li>Division of Neuropediatrics, University Hospital, Hospital for Children and Adolescents, Leipzig, Germany.<\/li>\n<li>Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.<\/li>\n<li>Department of Neuropediatrics, Developmental Neurology, Social Paediatrics, University Children\u2019s Hospital Tuebingen, Tuebingen, Germany.<\/li>\n<li>Gemeinschaftspraxis fuer Humangenetik, Hamburg, Germany.<\/li>\n<li>Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.<\/li>\n<li>Department of Medical Genetics and Applied Genomics, Rare Disease Center T\u00fcbingen, University of T\u00fcbingen, T\u00fcbingen, Germany.<\/li>\n<li>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, German Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany.<\/li>\n<li>CeGaT GmbH, Center for Genomics and Transcriptomics, T\u00fcbingen, Germany.<\/li>\n<li>Institute for Pathology, Hannover Medical School, Hannover, Germany.<\/li>\n<li>Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Germany.<\/li>\n<\/ol>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":18,"featured_media":54928,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[53],"tags":[252],"class_list":["post-15452","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-veroeffentlichungen","tag-neurodegenerative-erkrankungen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.<\/title>\n<meta name=\"description\" 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