{"id":27661,"date":"2025-06-24T16:47:46","date_gmt":"2025-06-24T13:47:46","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/centoxome-wes-whole-exome-sequencing-prenatal-varianta-single\/"},"modified":"2026-06-12T14:20:04","modified_gmt":"2026-06-12T11:20:04","slug":"centoxome-wes-whole-exome-sequencing-prenatal-varianta-single","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/centoxome-wes-whole-exome-sequencing-prenatal-varianta-single\/","title":{"rendered":"CentoXome &#8211; WES (whole exome sequencing) prenatal &#8211; varianta single"},"content":{"rendered":"<p>CentoXome WES prenatal este o analiz\u0103 genomic\u0103 extins\u0103 care utilizeaz\u0103 tehnologia de secven\u021biere a \u00eentregului exom (Whole Exome Sequencing), acoperind peste 20.000 de gene umane.<\/p>\n<p>Testul este realizat pe ADN fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale \u0219i este externalizat c\u0103tre laboratorul interna\u021bional Centogene, specializat \u00een diagnostic genomic avansat.<\/p>\n<p>Analiza permite identificarea variantelor genetice patogene, probabil patogene sau cu semnifica\u021bie incert\u0103 (VUS), asociate cu boli genetice rare, sindroame de dezvoltare \u0219i patologii congenitale complexe.<\/p>\n<p>Este o investiga\u021bie de tip \u201eexome-first approach\u201d, utilizat\u0103 \u00een special atunci c\u00e2nd fenotipul fetal sau istoricul familial sugereaz\u0103 o cauz\u0103 genetic\u0103 monogenic\u0103, dar nu exist\u0103 o muta\u021bie cunoscut\u0103 sau un panel \u021bintit disponibil.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Sindroame genetice rare de cauz\u0103 monogenic\u0103;<\/li>\n<li>Anomalii structurale fetale detectate ecografic;<\/li>\n<li>Boli neurodezvoltamentale severe;<\/li>\n<li>Malforma\u021bii congenitale multiple;<\/li>\n<li>Tulbur\u0103ri neuromusculare \u0219i scheletale;<\/li>\n<li>Boli metabolice ereditare cu debut precoce;<\/li>\n<li>Sindroame genetice cu etiologie necunoscut\u0103 dup\u0103 investiga\u021bii standard.<\/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 suspiciune de boli genetice complexe sau anomalii fetale inexplicabile prin teste standard.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Secven\u021biere de nou\u0103 genera\u021bie (NGS) a \u00eentregului exom fetal (WES), cu analiz\u0103 bioinformatic\u0103 avansat\u0103 realizat\u0103 \u00een cadrul laboratorului Centogene.<\/p>\n<h3>Testul detecteaz\u0103:<\/h3>\n<ul>\n<li>variante SNV (muta\u021bii punctiforme)<\/li>\n<li>indeluri (inser\u021bii\/dele\u021bii mici)<\/li>\n<li>variante patogene \u0219i probabil patogene<\/li>\n<li>variante cu semnifica\u021bie incert\u0103 (VUS)<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnostic genetic prenatal extins la nivel de exom;<\/li>\n<li>Poate cre\u0219te semnificativ rata de identificare a cauzei genetice \u00een anomalii fetale;<\/li>\n<li>Ajut\u0103 la clarificarea cazurilor f\u0103r\u0103 diagnostic dup\u0103 teste standard (cariotip, microarray);<\/li>\n<li>Ofer\u0103 informa\u021bii prognostice \u0219i reproductive esen\u021biale;<\/li>\n<li>Sus\u021bine deciziile clinice \u00een sarcini cu risc crescut;<\/li>\n<li>Reduce necesitatea testelor genetice secven\u021biale multiple.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analiza acoper\u0103 doar regiunile codante (aprox. 1\u20132% din genom);<\/li>\n<li>Nu detecteaz\u0103 \u00een mod optim toate tipurile de rearanjamente structurale complexe;<\/li>\n<li>Pot exista rezultate de tip VUS ce necesit\u0103 interpretare clinic\u0103;<\/li>\n<li>Nu \u00eenlocuie\u0219te complet microarray-ul sau cariotipul \u00een anumite contexte;<\/li>\n<li>Interpretarea depinde de corelarea cu fenotipul fetal \u0219i datele ecografice.<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<ul>\n<li>Lichid amniotic<\/li>\n<li>Vilozit\u0103\u021bi coriale (biopsie de trofoblast)<\/li>\n<\/ul>\n<h3>Recoltare:<\/h3>\n<p>Recoltarea se realizeaz\u0103 \u00een condi\u021bii sterile, prin amniocentez\u0103 sau biopsie de vilozit\u0103\u021bi coriale, efectuat\u0103 de medic specialist. Proba este transportat\u0103 conform protocolului c\u0103tre laboratorul interna\u021bional Centogene.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Este necesar\u0103 o prob\u0103 de \u00eenalt\u0103 calitate pentru a asigura acoperirea optim\u0103 a exomului. Contaminarea matern\u0103 sau degradarea ADN-ului poate reduce acurate\u021bea interpret\u0103rii.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>WES prenatal single fetus;<\/p>\n<p>Exome sequencing prenatal extins;<\/p>\n<p>Analiz\u0103 genomic\u0103 fetal\u0103 CentoXome;<\/p>\n<p>Secven\u021biere exomic\u0103 prenatal\u0103.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Microarray genomic (CMA) pentru varia\u021bii cromozomiale submicroscopice;<\/li>\n<li>Cariotip fetal pentru aneuploidii majore;<\/li>\n<li>Testare genetic\u0103 parental\u0103 (WES sau carrier screening) pentru interpretarea variantelor;<\/li>\n<li>Ecografie morfologic\u0103 fetal\u0103 avansat\u0103 \u0219i monitorizare serial\u0103;<\/li>\n<li>Consiliere genetic\u0103 prenatal\u0103 \u00eenainte \u0219i dup\u0103 testare pentru interpretare integrat\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 prenatal\u0103 avansat\u0103 prin secven\u021bierea \u00eentregului exom (WES), ce investigheaz\u0103 simultan toate regiunile codante ale genelor implicate \u00een boli genetice. Varianta single este destinat\u0103 analizei unui singur f\u0103t, \u00een context de risc genetic crescut sau suspiciune de boal\u0103 monogenic\u0103.<\/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-27661","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=\"CentoXome prenatal WES - analiz\u0103 genetic\u0103 extins\u0103 ce investigheaz\u0103 genele codante fetale, util\u0103 \u00een evaluarea anomaliilor de dezvoltare \u0219i a riscului de boli genetice \u00een timpul sarcinii.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/centoxome-wes-whole-exome-sequencing-prenatal-varianta-single\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.1\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - 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