{"id":72746,"date":"2026-01-28T13:48:48","date_gmt":"2026-01-28T11:48:48","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/sindrom-dravet-analiza-ngs-a-genei-scn1a\/"},"modified":"2026-03-24T10:50:02","modified_gmt":"2026-03-24T08:50:02","slug":"sindrom-dravet-analiza-ngs-a-genei-scn1a","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/sindrom-dravet-analiza-ngs-a-genei-scn1a\/","title":{"rendered":"Sindrom Dravet &#8211; analiza NGS a genei SCN1A"},"content":{"rendered":"<p>Testul analizeaz\u0103 \u00een detaliu gena <b>SCN1A<\/b>, care codific\u0103 subunitatea alfa a canalului de sodiu dependent de voltaj <b>NaV1.1<\/b>, esen\u021bial pentru func\u021bionarea neuronilor inhibitori GABAergici.<\/p>\n<p>Muta\u021biile patogene din aceast\u0103 gen\u0103 conduc la hiperexcitabilitate neuronal\u0103 \u0219i crize epileptice severe, refractare la tratament, caracteristice sindromului Dravet.<\/p>\n<p>Prin utilizarea tehnologiei <b>NGS (Next Generation Sequencing)<\/b>, analiza permite identificarea muta\u021biilor punctiforme, a inser\u021biilor\/dele\u021biilor mici \u0219i a variantelor cu semnifica\u021bie clinic\u0103 relevant\u0103, facilit\u00e2nd confirmarea diagnosticului molecular \u0219i orientarea managementului terapeutic.<\/p>\n<p><b><span style=\"color: #ff9c00;\">Afec\u021biuni sau simptome asociate:<\/span><\/b><\/p>\n<ul>\n<li>Sindrom Dravet (epilepsie mioclonic\u0103 sever\u0103 a copil\u0103riei);<\/li>\n<li>Crize epileptice febrile \u0219i afebrile cu debut \u00een primul an de via\u021b\u0103;<\/li>\n<li>Crize epileptice refractare la tratament;<\/li>\n<li>\u00cent\u00e2rziere de dezvoltare neuropsihomotorie;<\/li>\n<li>Tulbur\u0103ri cognitive \u0219i comportamentale;<\/li>\n<li>Ataxie, tulbur\u0103ri de mers;<\/li>\n<li>Risc crescut de status epilepticus \u0219i SUDEP.<\/li>\n<\/ul>\n<p><b><span style=\"color: #ff9c00;\">Cui se adreseaz\u0103:<\/span><\/b><\/p>\n<p>Medicilor neurologi pediatri, epileptologi, geneticieni, pediatri \u0219i altor speciali\u0219ti implica\u021bi \u00een evaluarea copiilor cu epilepsii severe cu debut precoce sau suspiciune de sindrom Dravet.<\/p>\n<p><b><span style=\"color: #ff9c00;\">Metodologie de testare:<\/span><\/b><\/p>\n<p>Secven\u021biere de nou\u0103 genera\u021bie <b>(NGS) <\/b>aplicat\u0103 ADN-ului genomic extras din s\u00e2nge periferic.<\/p>\n<p>Sunt analizate toate regiunile codante \u0219i limitele intron\u2013exon ale genei <b>SCN1A, <\/b>pentru identificarea variantelor patogene, probabil patogene \u0219i a variantelor de semnifica\u021bie incert\u0103 (VUS).<\/p>\n<p>Confirmarea variantelor cu relevan\u021b\u0103 clinic\u0103 se realizeaz\u0103, la nevoie, prin secven\u021biere Sanger.<\/p>\n<p><b><span style=\"color: #ff9c00;\">Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/span><\/b><\/p>\n<ul>\n<li>Confirm\u0103 diagnosticul molecular al sindromului Dravet.<\/li>\n<li>Permite diferen\u021bierea de alte epilepsii genetice cu debut precoce.<\/li>\n<li>Ghideaz\u0103 alegerea terapiei antiepileptice (evitarea blocantelor de canale de sodiu).<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru prognostic \u0219i consilierea familial\u0103.<\/li>\n<li>Contribuie la evaluarea riscului de recuren\u021b\u0103 \u0219i la testarea rudelor.<\/li>\n<\/ul>\n<p><b><span style=\"color: #ff9c00;\">Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/span><\/b><\/p>\n<ul>\n<li>Analiza este limitat\u0103 la gena SCN1A; alte gene implicate \u00een epilepsii genetice pot necesita paneluri NGS extinse.<\/li>\n<li>Nu detecteaz\u0103 rearanjamente cromozomiale mari sau muta\u021bii din regiunile neacoperite de NGS.<\/li>\n<li>Interpretarea variantelor rare sau noi necesit\u0103 corelare clinic\u0103 \u0219i electroencefalografic\u0103.<\/li>\n<\/ul>\n<p><b><span style=\"color: #ff9c00;\">Tip prob\u0103:<\/span><\/b><\/p>\n<p>S\u00e2nge periferic (EDTA) \u2013 <b>2 \u00d7 6 ml.<\/b><\/p>\n<p><b><span style=\"color: #ff9c00;\">Recoltare:<\/span><\/b><\/p>\n<p>Proba se recolteaz\u0103 \u00een vacutainer cu EDTA.<\/p>\n<p><b><span style=\"color: #ff9c00;\">Condi\u021bii:<\/span><\/b><\/p>\n<p>Transport la <b>2\u20138\u00b0C<\/b>, f\u0103r\u0103 congelare. Probele hemolizate sau insuficiente pot compromite analiza.<\/p>\n<p><b><span style=\"color: #ff9c00;\">Analize asociate recomandate:<br \/>\n<\/span><\/b><\/p>\n<ul>\n<li>Panel NGS pentru epilepsii genetice;<\/li>\n<li>EEG \u0219i monitorizare video-EEG;<\/li>\n<li>IRM cerebral pentru excluderea altor etiologii;<\/li>\n<li>Consiliere genetic\u0103 familial\u0103 post-testare;<\/li>\n<li>Testare genetic\u0103 parental\u0103 (pentru evaluarea caracterului de novo).<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 \u021bintit\u0103, realizat\u0103 prin <b>secven\u021biere de nou\u0103 genera\u021bie (NGS)<\/b>, pentru detectarea variantelor patogene \u00een gena <b>SCN1A<\/b>, principala gen\u0103 implicat\u0103 \u00een <b>sindromul Dravet<\/b>, o form\u0103 sever\u0103 de epilepsie genetic\u0103 cu debut precoce.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-72746","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","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 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiza NGS gena SCN1A - test genetic pentru sindrom Dravet si epilepsii ereditare, recomandat in convulsii precoce, febrile sau tulburari neurologice. 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