{"id":30766,"date":"2025-07-31T16:14:35","date_gmt":"2025-07-31T14:14:35","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/analiza-ngs-a-genei-notch3-sindrom-cadasil\/"},"modified":"2026-03-24T13:30:50","modified_gmt":"2026-03-24T11:30:50","slug":"analiza-ngs-a-genei-notch3-sindrom-cadasil","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-ngs-a-genei-notch3-sindrom-cadasil\/","title":{"rendered":"Analiza NGS a genei NOTCH3 &#8211; Sindrom CADASIL"},"content":{"rendered":"<p>Testul analizeaz\u0103 \u00een detaliu gena NOTCH3, responsabil\u0103 pentru codificarea unui receptor transmembranar implicat \u00een dezvoltarea \u0219i func\u021bionarea vaselor cerebrale mici. Muta\u021biile patogene din aceast\u0103 gen\u0103 determin\u0103 degenerarea celulelor musculare netede ale arteriolelor cerebrale, duc\u00e2nd la ischemii repetate \u0219i leucoencefalopatie subcortical\u0103 \u2013 caracteristice sindromului CADASIL.<\/p>\n<p>Prin tehnologia NGS (Next Generation Sequencing), testul permite identificarea precis\u0103 a muta\u021biilor punctiforme, a dele\u021biilor\/duplica\u021biilor mici \u0219i a variantelor de semnifica\u021bie clinic\u0103, facilit\u00e2nd diagnosticul diferen\u021bial \u0219i consilierea genetic\u0103 a familiilor afectate.<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate:<\/strong><\/p>\n<ul>\n<li>sindrom CADASIL (arteriopatie cerebral\u0103 ereditar\u0103 cu infarcte subcorticale \u0219i leucoencefalopatie)<\/li>\n<li>episoade recurente de accident vascular cerebral ischemic la v\u00e2rste tinere<\/li>\n<li>migrene cu aur\u0103<\/li>\n<li>tulbur\u0103ri cognitive progresive, demen\u021b\u0103 de cauz\u0103 vascular\u0103<\/li>\n<li>leziuni de substan\u021b\u0103 alb\u0103 cerebral\u0103 detectate prin RMN f\u0103r\u0103 factori vasculari tradi\u021bionali<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103:<\/strong><\/p>\n<p>Medicilor neurologi, geneticieni, interni\u0219ti \u0219i speciali\u0219tilor \u00een boli cerebrovasculare care evalueaz\u0103 pacien\u021bi cu suspiciune clinic\u0103 \u0219i imagistic\u0103 de CADASIL sau alte leucoencefalopatii ereditare.<\/p>\n<p><strong>Metodologie de testare:<\/strong><\/p>\n<p>Secven\u021biere de nou\u0103 genera\u021bie (NGS) aplicat\u0103 asupra ADN-ului genomic extras din s\u00e2nge periferic. Toate regiunile codante \u0219i limitele intron-exon ale genei NOTCH3 sunt analizate pentru identificarea variantelor patogene \u0219i a celor de semnifica\u021bie incert\u0103.<\/p>\n<p>Confirmarea variantelor clinice relevante se realizeaz\u0103, dup\u0103 caz, prin secven\u021biere Sanger.<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/strong><\/p>\n<ul>\n<li>confirm\u0103 diagnosticul molecular al sindromului CADASIL<\/li>\n<li>permite diferen\u021bierea de alte leucoencefalopatii ereditare sau forme vasculare secundare<\/li>\n<li>ofer\u0103 informa\u021bii esen\u021biale pentru consilierea familial\u0103 \u0219i determinarea riscului de transmitere<\/li>\n<li>contribuie la managementul clinic personalizat \u0219i preven\u021bia complica\u021biilor cerebrovasculare<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/strong><\/p>\n<ul>\n<li>analiza vizeaz\u0103 exclusiv gena NOTCH3; alte cauze genetice de leucoencefalopatie necesit\u0103 paneluri extinse<\/li>\n<li>nu detecteaz\u0103 rearanjamente cromozomiale mari sau muta\u021bii \u00een regiunile neacoperite de NGS<\/li>\n<li>interpretarea variantelor rare sau noi se face prin corelare clinic\u0103 \u0219i imagistic\u0103<\/li>\n<\/ul>\n<p><strong>Recoltare:<\/strong><\/p>\n<p>Proba se recolteaz\u0103 \u00een vacutainer cu EDTA.<\/p>\n<p><strong>Condi\u021bii:<\/strong><\/p>\n<p>Transport la 2\u20138 \u00b0C, f\u0103r\u0103 congelare. Probele hemolizate sau insuficiente pot compromite analiza.<\/p>\n<p><strong>Analize asociate recomandate:<\/strong><\/p>\n<ul>\n<li>panel NGS pentru leucoencefalopatii ereditare<\/li>\n<li>analiza MLPA pentru detectarea dele\u021biilor\/duplica\u021biilor mari \u00een NOTCH3<\/li>\n<li>examinare imagistic\u0103 RMN cerebral (pentru corelare clinic\u0103)<\/li>\n<li>consiliere genetic\u0103 familial\u0103 post-testare<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 \u021bintit\u0103, realizat\u0103 prin secven\u021biere de nou\u0103 genera\u021bie (NGS), pentru detectarea varia\u021biilor patogene \u00een gena NOTCH3, asociat\u0103 cu sindromul CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy).<\/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-30766","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=\"Test genetic NOTCH3 CADASIL - secventiere NGS pentru evaluarea mutatiilor implicate in boli vasculare cerebrale ereditare. 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