{"id":27682,"date":"2025-06-24T16:48:50","date_gmt":"2025-06-24T13:48:50","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-boli-ce-asociaza-dismorfism-include-craniosinostoze-ras-opatii-boala-hirschsprung-lizencefalie-si-alte-sindroame-cu-malformatii-cerebrale-si-craniofaciale\/"},"modified":"2026-07-02T11:28:01","modified_gmt":"2026-07-02T08:28:01","slug":"panel-boli-ce-asociaza-dismorfism-include-craniosinostoze-ras-opatii-boala-hirschsprung-lizencefalie-si-alte-sindroame-cu-malformatii-cerebrale-si-craniofaciale","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-boli-ce-asociaza-dismorfism-include-craniosinostoze-ras-opatii-boala-hirschsprung-lizencefalie-si-alte-sindroame-cu-malformatii-cerebrale-si-craniofaciale\/","title":{"rendered":"Panel boli ce asociaza dismorfism (include craniosinostoze, RAS-opatii, Boala Hirschsprung, lizencefalie si alte sindroame cu malformatii cerebrale si craniofaciale)"},"content":{"rendered":"<p>Panel boli ce asociaz\u0103 dismorfism (include craniosinostoze, RAS-opatii, Boala Hirschsprung, lizencefalie si alte sindroame cu malforma\u021bii cerebrale si craniofaciale) este un panel genomic comprehensiv care analizeaz\u0103 sute de gene implicate \u00een dezvoltarea embrionar\u0103, diferen\u021bierea tisular\u0103 \u0219i formarea structurilor craniofaciale, neurologice, scheletale \u0219i viscerale.<\/p>\n<h3>Acest panel include gene implicate \u00een:<\/h3>\n<ul>\n<li>sindroame de dismorfism craniofacial;<\/li>\n<li>craniosinostoze \u0219i defecte de dezvoltare cranian\u0103;<\/li>\n<li>RAS-opatii (ex. sindrom Noonan, cardio-facio-cutane, Costello);<\/li>\n<li>malforma\u021bii ale sistemului nervos central (ex. lizencefalie, agenezii, displazii corticale);<\/li>\n<li>boala Hirschsprung \u0219i tulbur\u0103ri de migrare neuronal\u0103 enteric\u0103;<\/li>\n<li>dizostoz\u0103 scheletal\u0103 \u0219i displazii osoase;<\/li>\n<li>sindroame complexe multisistemice cu debut precoce.<\/li>\n<\/ul>\n<p>Prin utilizarea secven\u021bierii de nou\u0103 genera\u021bie, testul identific\u0103 variante patogene, probabil patogene \u0219i variante de semnifica\u021bie incert\u0103 (VUS), incluz\u00e2nd muta\u021bii punctiforme \u0219i mici inser\u021bii\/dele\u021bii \u00een genele implicate \u00een dezvoltarea embrionar\u0103.<\/p>\n<h3>Afec\u021biuni sau simptome asociate:<\/h3>\n<ul>\n<li>Dismorfism craniofacial (anomalii faciale congenitale);<\/li>\n<li>Craniosinostoze;<\/li>\n<li>\u00cent\u00e2rziere de dezvoltare neuropsihomotorie;<\/li>\n<li>Dizabilitate intelectual\u0103;<\/li>\n<li>Malforma\u021bii cerebrale (lizencefalie, agirie\/pahigirie, displazii corticale);<\/li>\n<li>Microcefalie sau macrocefalie;<\/li>\n<li>Boala Hirschsprung;<\/li>\n<li>Malforma\u021bii cardiace congenitale;<\/li>\n<li>Malforma\u021bii scheletale \u0219i displazii osoase;<\/li>\n<li>Anomalii genito-urinare sau multisistemice;<\/li>\n<li>Sindroame RAS-opatii;<\/li>\n<li>Epilepsie cu debut precoce asociat\u0103 malforma\u021biilor cerebrale.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor geneticieni, neonatologilor, pediatrilor, neurologilor pediatri, chirurgilor cranio-faciali, gastroenterologilor pediatri \u0219i altor speciali\u0219ti implica\u021bi \u00een evaluarea pacien\u021bilor cu malforma\u021bii congenitale complexe sau suspiciune de sindrom genetic.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza este realizat\u0103 prin tehnologie <strong>NGS (Next Generation Sequencing)<\/strong> pe ADN genomic extras din s\u00e2nge periferic.<\/p>\n<h3>Panelul CentoDysmorph acoper\u0103 un spectru extins de gene (peste 400 de gene), implicate \u00een:<\/h3>\n<ul>\n<li>dezvoltare craniofacial\u0103;<\/li>\n<li>organogenez\u0103;<\/li>\n<li>migrare neuronal\u0103;<\/li>\n<li>formarea sistemului nervos central;<\/li>\n<li>dezvoltare scheletal\u0103 \u0219i tisular\u0103.<\/li>\n<\/ul>\n<h3>Sunt detectate:<\/h3>\n<ul>\n<li>variante patogene;<\/li>\n<li>variante probabil patogene;<\/li>\n<li>variante de semnifica\u021bie incert\u0103 (VUS).<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnosticul molecular al sindroamelor complexe de dismorfism;<\/li>\n<li>Ajut\u0103 la identificarea cauzei genetice \u00een malforma\u021bii congenitale multiple;<\/li>\n<li>Ghideaz\u0103 managementul multidisciplinar al pacientului;<\/li>\n<li>Ofer\u0103 informa\u021bii prognostice importante;<\/li>\n<li>Permite consilierea genetic\u0103 a familiei;<\/li>\n<li>Faciliteaz\u0103 testarea familial\u0103 (cascade testing);<\/li>\n<li>Sprijin\u0103 deciziile terapeutice \u0219i chirurgicale precoce.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Panelul include un num\u0103r mare de gene, dar nu acoper\u0103 toate cauzele genetice posibile;<\/li>\n<li>Unele regiuni genetice pot avea acoperire tehnic\u0103 limitat\u0103;<\/li>\n<li>Pot fi identificate variante cu semnifica\u021bie incert\u0103 (VUS);<\/li>\n<li>Interpretarea necesit\u0103 corelare clinic\u0103 \u0219i imagistic\u0103 (RMN cerebral, evaluare craniofacial\u0103 etc.);<\/li>\n<li>Nu detecteaz\u0103 toate tipurile de rearanjamente cromozomiale complexe.<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<p>S\u00e2nge periferic (EDTA) \u2013 2 \u00d7 6 ml.<\/p>\n<h3>Recoltare:<\/h3>\n<p>Proba se recolteaz\u0103 \u00een vacutainer cu EDTA, conform standardelor pentru testare genetic\u0103 molecular\u0103.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Transport la 2\u20138\u00b0C.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<ul>\n<li>CentoDysmorph panel;<\/li>\n<li>Panel genetic dismorfisme \u0219i malforma\u021bii congenitale;<\/li>\n<li>NGS malforma\u021bii craniofaciale;<\/li>\n<li>Test genetic craniosinostoz\u0103;<\/li>\n<li>Panel RAS-opatii;<\/li>\n<li>Panel malforma\u021bii cerebrale congenitale;<\/li>\n<li>Secven\u021biere gene dismorfism.<\/li>\n<\/ul>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>RMN cerebral;<\/li>\n<li>Examinare neurologic\u0103 pediatric\u0103;<\/li>\n<li>Ecografie cardiac\u0103;<\/li>\n<li>Evaluare gastroenterologic\u0103 (pentru suspiciune Hirschsprung);<\/li>\n<li>Testare genetic\u0103 familial\u0103;<\/li>\n<li>Consiliere genetic\u0103;<\/li>\n<li>Microarray CGH (\u00een cazuri selectate);<\/li>\n<li>Evaluare multidisciplinar\u0103 (neurologie, genetic\u0103, chirurgie craniofacial\u0103).<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Panel genetic extins realizat prin tehnologie <strong>NGS (Next Generation Sequencing)<\/strong>, utilizat pentru identificarea variantelor patogene asociate <strong>sindroamelor cu dismorfism craniofacial, craniosinostozelor, RAS-opatiilor, malforma\u021biilor cerebrale, bolii Hirschsprung \u0219i altor tulbur\u0103ri complexe de dezvoltare embrionar\u0103<\/strong>.<\/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-27682","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=\"Panel genetic pentru boli cu dismorfism - include craniosinostoze, RAS-opatii, boala Hirschsprung, lizencefalie \u0219i alte sindroame cu malforma\u021bii cerebrale \u0219i craniofaciale. 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