{"id":26877,"date":"2025-06-24T15:28:54","date_gmt":"2025-06-24T12:28:54","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-prenatala-panel-ngs-personalizat-101-3000-gene\/"},"modified":"2026-10-21T19:43:41","modified_gmt":"2026-10-21T16:43:41","slug":"testare-prenatala-panel-ngs-personalizat-101-3000-gene","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/testare-prenatala-panel-ngs-personalizat-101-3000-gene\/","title":{"rendered":"Testare prenatala panel NGS personalizat (101- 3000 gene)"},"content":{"rendered":"<p>Testul utilizeaz\u0103 tehnologia NGS pentru analiza ADN-ului fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale, permi\u021b\u00e2nd identificarea variantelor genetice patogene, probabil patogene sau cu semnifica\u021bie incert\u0103.<\/p>\n<p>Panelul poate include \u00eentre 101 \u0219i 3000 de gene, selectate \u00een func\u021bie de indica\u021bia clinic\u0103 (anomalii ecografice, istoric familial, risc genetic crescut sau consiliere genetic\u0103 preconcep\u021bional\u0103).<\/p>\n<h3>Analiza permite detec\u021bia variantelor de tip:<\/h3>\n<ul>\n<li>SNV (muta\u021bii punctiforme)<\/li>\n<li>indel (inser\u021bii\/dele\u021bii)<\/li>\n<li>CNV (varia\u021bii de num\u0103r de copii)<\/li>\n<li>anumite variante structurale relevante clinic, \u00een func\u021bie de designul panelului \u0219i de metodologia utilizat\u0103<\/li>\n<\/ul>\n<p>Este un instrument de medicin\u0103 fetal\u0103 de precizie, cu rol \u00een clarificarea diagnosticului genetic prenatal extins.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Sindroame genetice monogenice severe (neurologice, metabolice, scheletale);<\/li>\n<li>Malforma\u021bii congenitale complexe cu substrat genetic;<\/li>\n<li>Boli neuromusculare \u0219i neurodezvoltamentale;<\/li>\n<li>Tulbur\u0103ri metabolice ereditare;<\/li>\n<li>Sindroame polimalformative;<\/li>\n<li>Anomalii de dezvoltare fetal\u0103 detectate ecografic;<\/li>\n<li>Suspiciune de boli genetice rare cu debut neonatal sau infantil precoce.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor ginecologi, speciali\u0219tilor \u00een medicin\u0103 materno-fetal\u0103, geneticienilor medicali \u0219i consilierilor genetici implica\u021bi \u00een evaluarea sarcinilor cu risc genetic crescut, anomalii ecografice sau istoric familial sugestiv.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<h3>Secven\u021biere de nou\u0103 genera\u021bie (NGS) aplicat\u0103 pe ADN fetal ob\u021binut din:<\/h3>\n<ul>\n<li>lichid amniotic (amniocentez\u0103) sau<\/li>\n<li>vilozit\u0103\u021bi coriale (biopsie de vilozit\u0103\u021bi coriale)<\/li>\n<\/ul>\n<p>Panelul este complet personalizabil (101\u20133000 gene), adaptat suspiciunii clinice \u0219i fenotipului fetal, cu acoperire extins\u0103 pentru detec\u021bia variantelor genetice relevante.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Poate contribui la diagnosticul genetic prenatal extins \u0219i precis;<\/li>\n<li>Poate identifica variante genetice asociate unor anomalii structurale sau func\u021bionale fetale;<\/li>\n<li>Ofer\u0103 informa\u021bii prognostice esen\u021biale pentru managementul sarcinii;<\/li>\n<li>Sus\u021bine deciziile medicale informate privind monitorizarea sau conduita obstetrical\u0103;<\/li>\n<li>Reduce necesitatea test\u0103rilor genetice secven\u021biale multiple;<\/li>\n<li>Permite consiliere genetic\u0103 \u021bintit\u0103 pentru familie.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analiza vizeaz\u0103 exclusiv ADN-ul fetal \u0219i poate include variante de novo sau mo\u0219tenite;<\/li>\n<li>Nu \u00eenlocuie\u0219te cariotipul clasic sau microarray-ul \u00een toate situa\u021biile clinice;<\/li>\n<li>Interpretarea variantelor VUS necesit\u0103 corelare clinic\u0103 \u0219i ecografic\u0103;<\/li>\n<li>Rezultatul depinde de calitatea \u0219i cantitatea ADN-ului fetal ob\u021binut;<\/li>\n<li>Unele regiuni genetice pot avea acoperire limitat\u0103 \u00een func\u021bie de designul panelului.<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<ul>\n<li>Lichid amniotic (amniocentez\u0103)<\/li>\n<li>Vilozit\u0103\u021bi coriale (biopsie de trofoblast)<\/li>\n<\/ul>\n<h3>Recoltare:<\/h3>\n<p>Recoltarea se realizeaz\u0103 \u00een mediu steril, \u00een condi\u021bii strict controlate, de c\u0103tre medic specialist. Probele trebuie transportate rapid c\u0103tre laborator, \u00een condi\u021bii adecvate de temperatur\u0103 \u0219i stabilitate biologic\u0103.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Respectarea strict\u0103 a protocolului de recoltare este esen\u021bial\u0103 pentru integritatea ADN-ului fetal. Contaminarea matern\u0103 sau degradarea probei poate influen\u021ba acurate\u021bea rezultatelor.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Panel NGS prenatal extins 101\u20133000 gene;<\/p>\n<p>Testare genetic\u0103 fetal\u0103 personalizat\u0103;<\/p>\n<p>Profil genomic prenatal avansat;<\/p>\n<p>Analiz\u0103 molecular\u0103 fetal\u0103 prin NGS.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Microarray genomic (CMA) pentru dezechilibre cromozomiale submicroscopice;<\/li>\n<li>Cariotip fetal pentru aneuploidii majore;<\/li>\n<li>Teste non-invazive (NIPT) ca screening complementar;<\/li>\n<li>Testare genetic\u0103 parental\u0103 (carrier screening) pentru corelarea variantelor identificate;<\/li>\n<li>Ecografie morfologic\u0103 fetal\u0103 detaliat\u0103 \u0219i monitorizare serial\u0103;<\/li>\n<li>Consiliere genetic\u0103 pre \u0219i post-testare pentru interpretare integrat\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 avansat\u0103 realizat\u0103 prin secven\u021biere de nou\u0103 genera\u021bie (NGS), ce permite investigarea simultan\u0103 a unui num\u0103r extins de gene (101\u20133000) implicate \u00een dezvoltarea embrionar\u0103 \u0219i fetal\u0103. Panelul este complet personalizabil \u0219i utilizat pentru evaluarea riscului de boli genetice fetale severe.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3173,2876],"product_tag":[],"class_list":["post-26877","product","type-product","status-publish","product_cat-analize","product_cat-genetica-in-sarcina","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 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 avansat\u0103 realizat\u0103 prin secven\u021biere de nou\u0103 genera\u021bie (NGS), ce permite investigarea simultan\u0103 a unui num\u0103r extins de gene (101\u20133000) implicate \u00een dezvoltarea embrionar\u0103 \u0219i fetal\u0103. 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