{"id":12635,"date":"2026-02-12T07:37:33","date_gmt":"2026-02-12T04:37:33","guid":{"rendered":"https:\/\/nesiller.com\/sma\/"},"modified":"2026-10-11T09:32:31","modified_gmt":"2026-10-11T06:32:31","slug":"sma","status":"publish","type":"page","link":"https:\/\/nesiller.com\/en\/carrier-screening\/sma\/","title":{"rendered":"SMA"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"12635\" class=\"elementor elementor-12635 elementor-11723\" data-elementor-post-type=\"page\">\n\t\t\t\t<div data-ekitparallax=\"{&quot;ekit_section_parallax_bg&quot;:&quot;yes&quot;,&quot;ekit_section_parallax_bg_speed&quot;:0.5,&quot;elementor_lazy_load&quot;:&quot;1&quot;}\" class=\"elementor-element elementor-element-fd5084e e-flex e-con-boxed e-con e-parent\" data-id=\"fd5084e\" 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-7c98690 e-con-full e-flex e-con e-child\" data-id=\"7c98690\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-a51483c section-title at-heading-animation at-animation-heading-none elementor-invisible elementor-widget elementor-widget-heading\" data-id=\"a51483c\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeInUp&quot;,&quot;ekit_we_effect_on&quot;:&quot;none&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<div class=\"elementor-heading-title elementor-size-default\"><a href=\"https:\/\/nesiller.com\/en\/carrier-screening\/\">Carrier Screening and Reproductive Genetics<\/a><\/div>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b855eae elementor-widget elementor-widget-heading\" data-id=\"b855eae\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;ekit_we_effect_on&quot;:&quot;none&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">Spinal Muscular Atrophy (SMA)<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-024c3dd elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"024c3dd\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeInUp&quot;,&quot;_animation_delay&quot;:200,&quot;ekit_we_effect_on&quot;:&quot;none&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>The First Step in Family Planning<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-94aedb9 elementor-widget elementor-widget-button\" data-id=\"94aedb9\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;ekit_we_effect_on&quot;:&quot;none&quot;}\" data-widget_type=\"button.default\">\n\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"#\">\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\">Test brochure<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\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<div class=\"elementor-element elementor-element-5ac74e4 e-flex e-con-boxed e-con e-parent\" data-id=\"5ac74e4\" 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-ce6fc12 elementor-widget elementor-widget-text-editor\" data-id=\"ce6fc12\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;ekit_we_effect_on&quot;:&quot;none&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p class=\"isSelectedEnd\"><strong>Spinal Muscular Atrophy (SMA)<\/strong> is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy. This autosomal recessive condition is primarily caused by homozygous deletions of the <strong>SMN1<\/strong> gene, while the <strong>SMN2<\/strong> gene influences disease severity.<\/p><p class=\"isSelectedEnd\"><strong>Who Is It For?<\/strong><\/p><ul data-spread=\"false\"><li>All couples planning a pregnancy and all pregnant women.<\/li><li>Individuals presenting with clinical signs and symptoms associated with SMA.<\/li><li><strong>SMA Carrier Screening<\/strong> identifies carrier status in healthy individuals, helping to assess the risk of having a child affected by SMA.<\/li><\/ul><p class=\"isSelectedEnd\"><strong>Method<br \/><\/strong>According to the <strong>American College of Medical Genetics and Genomics (ACMG)<\/strong> guidelines, both <strong>MLPA<\/strong> and <strong>NGS<\/strong> methods should be used together for SMA screening and diagnosis.<\/p><ul data-spread=\"false\"><li><strong>MLPA:<\/strong> The gold-standard method for detecting <strong>SMN1<\/strong> deletions and determining <strong>SMN2<\/strong> copy number.<\/li><li><strong>NGS:<\/strong> Enables the sensitive detection of rare variants and copy number variations (CNVs).<\/li><\/ul><p><strong>Important Note:<\/strong> The MLPA analysis performed at our center also evaluates and reports variants associated with <strong>silent carrier<\/strong> status.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-7ed033d e-grid e-con-full e-con e-child\" data-id=\"7ed033d\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-9283538 elementor-widget elementor-widget-text-editor\" data-id=\"9283538\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;ekit_we_effect_on&quot;:&quot;none&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<table class=\"full-width\"><tbody><tr><td><p><b>Feature<\/b><\/p><\/td><td><p style=\"text-align: center;\"><b>Details<\/b><\/p><\/td><\/tr><tr><td><p><b>Method<\/b><\/p><\/td><td><p style=\"text-align: center;\"><span style=\"font-weight: 400;\">MLPA \/ NGS<\/span><\/p><\/td><\/tr><tr><td><p><b>Coverage<\/b><\/p><\/td><td><p style=\"text-align: center;\"><span style=\"font-weight: 400;\">SMN1 and SMN2 genes<\/span><\/p><\/td><\/tr><tr><td><p><b>Sample Requirement<\/b><\/p><\/td><td><p style=\"text-align: center;\">Blood (EDTA Tube)<\/p><\/td><\/tr><tr><td><p><b>Turnaround Time (TAT)<\/b><\/p><\/td><td><p style=\"text-align: center;\">MLPA: 10-14 days\u00a0<br \/>NGS: 4-5 weeks<\/p><\/td><\/tr><\/tbody><\/table><p><span style=\"font-weight: 400;\"><br \/>*For a detailed sample collection, please contact our team.<br \/><\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-65d25e7 at-image-animation at-animation-image-none at-none elementor-widget elementor-widget-image\" data-id=\"65d25e7\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;ekit_we_effect_on&quot;:&quot;none&quot;}\" data-widget_type=\"image.default\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/nesiller.com\/wp-content\/uploads\/2026\/06\/WhatsApp-Image-2026-06-23-at-15.23.00.jpeg\" data-elementor-open-lightbox=\"yes\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6MTY1OTcsInVybCI6Imh0dHBzOlwvXC9uZXNpbGxlci5jb21cL3dwLWNvbnRlbnRcL3VwbG9hZHNcLzIwMjZcLzA2XC9XaGF0c0FwcC1JbWFnZS0yMDI2LTA2LTIzLWF0LTE1LjIzLjAwLmpwZWcifQ%3D%3D\">\n\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"398\" src=\"https:\/\/nesiller.com\/wp-content\/uploads\/2026\/06\/WhatsApp-Image-2026-06-23-at-15.23.00.jpeg\" class=\"attachment-full size-full wp-image-16597\" alt=\"SMA screening process: female MLPA screening, partner screening, prenatal diagnosis and preimplantation genetic testing\" \/>\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\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>Carrier Screening and Reproductive Genetics Spinal Muscular Atrophy (SMA) The First Step [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":12705,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"footnotes":""},"class_list":["post-12635","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12635","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/comments?post=12635"}],"version-history":[{"count":27,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12635\/revisions"}],"predecessor-version":[{"id":21362,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12635\/revisions\/21362"}],"up":[{"embeddable":true,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12705"}],"wp:attachment":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/media?parent=12635"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}