{"id":28,"date":"2026-05-07T10:42:58","date_gmt":"2026-05-07T10:42:58","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/?page_id=28"},"modified":"2026-09-15T14:33:47","modified_gmt":"2026-09-15T14:33:47","slug":"laboratory-testing","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/laboratory-testing\/","title":{"rendered":"Laboratory Testing"},"content":{"rendered":"<div id=\"acf-block-6a019df5cafb5\" class=\"simple-hero\">\n        <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t\t\t\t\t\t    <span class=\"section-title\">Identification &amp; Diagnosis<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t    <h1>Laboratory Testing\n<\/h1>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<figure id=\"acf-block-6a019df5cb1c9\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/Identification-hero.jpg?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h2 style=\"font-weight: bold\">Laboratory diagnostics for CLN2 disease are well established and straightforward<sup>1<\/sup><\/h2>\n\n\n<p class=\"p1\">CLN2 disease is caused by pathogenic variants\/mutations in the tripeptidyl peptidase 1 <em>(TPP1)\/CLN2<\/em> gene and the resulting deficiency of the TPP1 enzyme.<\/p>\n<p>Diagnostic tests will either show:<\/p>\n\n<ul class=\"no-left\">\n<li>Two pathogenic variants in trans (from separate parental alleles) in the <em>TPP1\/CLN2<\/em> gene<sup>1<\/sup>\n<ul class=\"sub_list\">\n<li>There are two commonly reported pathogenic variants associated with CLN2 disease: c.509-1G&gt;C and c.622C&gt;T (p.Arg208Ter), and at least one of these two mutations can be present in up to 89% of patients with CLN2 disease<sup>1,2<\/sup><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p class=\"center\"><em><strong>AND\/OR<\/strong><\/em><\/p>\n<ul class=\"no-left\">\n<li>Deficient TPP1 enzyme activity<sup>1<\/sup><\/li>\n<\/ul>\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content block-tight-top\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-natural-size image-align-center\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/Molecular-testing.png?v=0.4\" alt=\"\" \/>            <\/div>\n            <figcaption><p>Molecular testing of <em>CLN2\/TPP1<\/em> gene is included on many commercially available symptom-based (eg, epilepsy, ataxia) and disease-based (eg, NCL, LSD) panels.<sup>1<\/sup><\/p>\n<\/figcaption>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h4 style=\"color: #41b6e6\">TPP1\/CLN2 Molecular testing in presence of seizures and\/or other clinical signs of CLN2 disease<\/h4>\n\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content block-tight-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-natural-size image-align-center\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/Molecular-testing-2.png?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a01a49961a54\" class=\"block boxed-content block-zero-top\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t                    <h2>An early diagnosis facilitates access to CLN2-specific management strategies that can positively impact quality of life for children and their families and enables genetic counseling that is crucial to family planning.\n<\/h2>\n                \t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/hr-1900x2.png\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a01c0140f407\" class=\"block boxed-content boxed-content-no-bg\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-6a01c0140f47a\" class=\"image-text-block\">\n            <div class=\"image-block small\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/behind-seizure-logo.png?v=0.4\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                            \n<p>&nbsp;<\/p>\n\n<p>BioMarin has partnered with Invitae\/Lacorp to bring you the Behind the Seizure<sup>\u00ae<\/sup> program\u2014a no-cost epilepsy gene panel testing program to help health care providers diagnose CLN2 disease earlier.<\/p>\n\n\n<p>In as little as 2 weeks, an epilepsy gene panel test can bring you and your eligible patients closer to identifying if there is a genetic cause <em>behind the seizure.<\/em><\/p>\n<p><strong>Visit <a href=\"https:\/\/www.invitae.com\/sponsored-testing\/behind-the-seizure\" target=\"_blank\" rel=\"noopener\">Behind the Seizure<\/a> to learn more and to order a test.<\/strong><\/p>\n                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a01c1e0e8d25\" class=\"block references\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>References:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>Fietz M, AlSayed M, Burke D, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. <em>Mol Genet Metab.<\/em> 2016;119:160-167.\n<\/span><\/li>\n                                                                                                                                                <li><span>Kousi M, Lehesjoki A-E, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. <em>Hum Mutat.<\/em> 2012;33:42-63.\n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":26,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-28","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CLN2 Connection | Lab testing \\HCP BioMarin<\/title>\n<meta name=\"description\" content=\"Learn about laboratory testing for CLN2 disease, including enzyme activity testing and genetic testing to help confirm a diagnosis.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/laboratory-testing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CLN2 Connection | Lab testing \\HCP BioMarin\" \/>\n<meta property=\"og:description\" content=\"Learn about laboratory testing for CLN2 disease, including enzyme activity testing and genetic testing to help confirm a diagnosis.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/laboratory-testing\/\" \/>\n<meta property=\"og:site_name\" content=\"BMRN CLN2 DSE HCP EN-US\" \/>\n<meta property=\"article:modified_time\" content=\"2026-09-15T14:33:47+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/laboratory-testing\\\/\",\"url\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/laboratory-testing\\\/\",\"name\":\"CLN2 Connection | Lab testing \\\\HCP BioMarin\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/#website\"},\"datePublished\":\"2026-05-07T10:42:58+00:00\",\"dateModified\":\"2026-09-15T14:33:47+00:00\",\"description\":\"Learn about laboratory testing for CLN2 disease, including enzyme activity testing and genetic testing to help confirm a diagnosis.\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/laboratory-testing\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/laboratory-testing\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/identification-diagnosis\\\/laboratory-testing\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Identification &amp; 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