{"id":67820,"date":"2026-01-05T17:55:16","date_gmt":"2026-01-05T14:55:16","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/analiza-ngs-a-genei-kcnj2-sindrom-andersen-tawil\/"},"modified":"2026-06-12T14:16:56","modified_gmt":"2026-06-12T11:16:56","slug":"analiza-ngs-a-genei-kcnj2-sindrom-andersen-tawil","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/analiza-ngs-a-genei-kcnj2-sindrom-andersen-tawil\/","title":{"rendered":"Analiza NGS a genei KCNJ2 \u2013 Sindrom Andersen\u2013Tawil"},"content":{"rendered":"<p>Sindromul Andersen\u2013Tawil este o boal\u0103 genetic\u0103 rar\u0103 cu transmitere autosomal dominant\u0103, determinat\u0103 \u00een majoritatea cazurilor de variante patogene \u00een gena <strong>KCNJ2<\/strong>. Aceast\u0103 gen\u0103 codific\u0103 un canal de potasiu implicat \u00een reglarea excitabilit\u0103\u021bii electrice a celulelor musculare \u0219i cardiace.<\/p>\n<p>Afectarea genei determin\u0103 o disfunc\u021bie a canalelor ionice, ceea ce duce la manifest\u0103ri clinice variabile, \u00een special tulbur\u0103ri de ritm cardiac (aritmii ventriculare), episoade de sl\u0103biciune muscular\u0103 periodic\u0103 \u0219i anomalii scheletale caracteristice.<\/p>\n<p>Testarea NGS permite secven\u021bierea complet\u0103 a genei KCNJ2 \u0219i identificarea variantelor patogene, fiind metoda standard pentru confirmarea diagnosticului genetic.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Suspiciune de sindrom Andersen\u2013Tawil<\/li>\n<li>Aritmii ventriculare sau tulbur\u0103ri de ritm inexplicabile<\/li>\n<li>Episoade de paralizie periodic\u0103 sau sl\u0103biciune muscular\u0103 intermitent\u0103<\/li>\n<li>Prezen\u021ba unor tr\u0103s\u0103turi dismorfice scheletale (clinodactilie, statur\u0103 mic\u0103, anomalii faciale)<\/li>\n<li>Istoric familial de aritmii sau moarte subit\u0103 cardiac\u0103<\/li>\n<li>Evaluare genetic\u0103 \u00een tulbur\u0103ri de canalopatii<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Pacien\u021bi cu aritmii cardiace f\u0103r\u0103 cauz\u0103 structural\u0103 evident\u0103<\/li>\n<li>Copii sau adul\u021bi cu episoade de sl\u0103biciune muscular\u0103 episodic\u0103<\/li>\n<li>Persoane cu suspiciune de canalopatii ereditare<\/li>\n<li>Membri ai familiilor cu muta\u021bii KCNJ2 confirmate<\/li>\n<li>Pacien\u021bi \u00een evaluare pentru risc de moarte subit\u0103 cardiac\u0103 de cauz\u0103 genetic\u0103<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<h3>NGS (Next Generation Sequencing)<\/h3>\n<ul>\n<li>Secven\u021biere complet\u0103 a genei <strong>KCNJ2<\/strong><\/li>\n<li>Detectarea variantelor punctiforme, dele\u021biilor \u0219i inser\u021biilor mici<\/li>\n<li>Analiz\u0103 bioinformatic\u0103 \u0219i interpretare conform ghidurilor ACMG<\/li>\n<li>Confirmarea variantelor patogene prin metode complementare, dac\u0103 este necesar<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Confirmarea genetic\u0103 a sindromului Andersen\u2013Tawil<\/li>\n<li>Permite diferen\u021bierea de alte canalopatii cardiace (ex. sindromul QT lung, paralizia periodic\u0103 hipokaliemic\u0103)<\/li>\n<li>Evaluarea riscului de aritmii maligne \u0219i moarte subit\u0103 cardiac\u0103<\/li>\n<li>Ghidarea tratamentului \u0219i monitoriz\u0103rii cardiologice<\/li>\n<li>Consiliere genetic\u0103 pentru familie \u0219i risc de transmitere<\/li>\n<li>Importan\u021b\u0103 major\u0103 \u00een preven\u021bia complica\u021biilor cardiace severe<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<ul>\n<li>2 \u00d7 6 ml s\u00e2nge venos periferic<\/li>\n<li>Tuburi cu anticoagulant <strong>EDTA<\/strong><\/li>\n<li>Transport conform protocolului de laborator genetic<\/li>\n<li>Nu necesit\u0103 condi\u021bii speciale de preg\u0103tire<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Test genetic KCNJ2<\/li>\n<li>Analiz\u0103 sindrom Andersen\u2013Tawil<\/li>\n<li>NGS canal KCNJ2<\/li>\n<li>Panel canalopatii potasiu<\/li>\n<li>Secven\u021biere KCNJ2 complet\u0103<\/li>\n<li>Test genetic aritmii ereditare<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Test genetic prin secven\u021biere NGS a genei\u00a0<strong>KCNJ2<\/strong>, utilizat pentru diagnosticul sindromului Andersen\u2013Tawil, o afec\u021biune rar\u0103 care afecteaz\u0103 ritmul cardiac, mu\u0219chii \u0219i dezvoltarea scheletic\u0103.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3167,2876],"product_tag":[],"class_list":["post-67820","product","type-product","status-publish","product_cat-analize","product_cat-fertilitate-infertilitate-fiv","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - 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