{"id":122008,"date":"2026-08-20T10:51:02","date_gmt":"2026-08-20T07:51:02","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/genome-dx-wgs-whole-genome-sequencing\/"},"modified":"2026-08-20T10:51:02","modified_gmt":"2026-08-20T07:51:02","slug":"genome-dx-wgs-whole-genome-sequencing","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/genome-dx-wgs-whole-genome-sequencing\/","title":{"rendered":"Genome DX-WGS (whole genome sequencing)"},"content":{"rendered":"<p>GenomeDx utilizeaz\u0103 <strong>Whole Genome Sequencing (WGS)<\/strong>\u00a0pentru analiza \u00eentregului material genetic al pacientului. Spre deosebire de testele genetice care investigheaz\u0103 o singur\u0103 gen\u0103, un panel de gene sau doar regiunile codante ale genelor (exom), WGS permite analiza unei cantit\u0103\u021bi mult mai extinse de informa\u021bie genomic\u0103.<\/p>\n<h3>Datele ob\u021binute prin secven\u021biere sunt interpretate \u00een contextul:<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->istoricului medical personal;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->semnelor \u0219i simptomelor pacientului;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->istoricului familial;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->investiga\u021biilor genetice efectuate anterior;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->informa\u021biilor clinice furnizate de medic.<\/p>\n<p>\u00a0<\/p>\n<h3>Afec\u021biuni sau situa\u021bii clinice asociate<\/h3>\n<p>GenomeDx nu este destinat unei singure boli, ci poate fi utilizat \u00een investigarea unei game largi de afec\u021biuni cu posibil\u0103 origine genetic\u0103, inclusiv:<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->boli rare \u0219i boli genetice complexe;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->sindroame genetice f\u0103r\u0103 o cauz\u0103 molecular\u0103 identificat\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->tulbur\u0103ri de neurodezvoltare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->\u00eent\u00e2rziere global\u0103 \u00een dezvoltare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->dizabilitate intelectual\u0103 de cauz\u0103 necunoscut\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->epilepsii cu suspiciune genetic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->tulbur\u0103ri neuromusculare ereditare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->boli metabolice ereditare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->boli mitocondriale;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->malforma\u021bii congenitale multiple;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->tulbur\u0103ri multisistemice;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->cardiomiopatii \u0219i alte boli cardiovasculare ereditare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->boli renale ereditare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->afec\u021biuni hepatice cu suspiciune genetic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->tulbur\u0103ri endocrine ereditare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->boli hematologice genetice;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->sindroame genetice rare cu fenotip complex.<\/p>\n<h3>Cui se adreseaz\u0103<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pacien\u021bilor cu suspiciune de boal\u0103 genetic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pacien\u021bilor cu fenotip complex sau multisystemic;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pacien\u021bilor cu diagnostic clinic neclar;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pacien\u021bilor la care testele genetice anterioare au fost negative;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pacien\u021bilor cu rezultate neconcludente la paneluri genetice sau exom;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->copiilor cu \u00eent\u00e2rziere de dezvoltare sau dizabilitate intelectual\u0103 de cauz\u0103 necunoscut\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pacien\u021bilor cu multiple malforma\u021bii congenitale;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pacien\u021bilor cu boli rare f\u0103r\u0103 diagnostic molecular;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->persoanelor cu istoric familial sugestiv pentru o afec\u021biune genetic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->medicilor geneticieni \u0219i speciali\u0219tilor care investigheaz\u0103 boli cu posibil\u0103 etiologie genetic\u0103.<\/p>\n<h3>Metodologie de testare<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]--><strong>Whole Genome Sequencing (WGS);<\/strong><\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->analiz\u0103 bioinformatic\u0103 extins\u0103 a datelor genomice;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->identificarea \u0219i clasificarea variantelor genetice relevante din punct de Vedere clinic;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->interpretare corelat\u0103 cu fenotipul pacientului;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->corelare genotip\u2013fenotip;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->interpretare \u00een func\u021bie de istoricul medical \u0219i familial;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->confirmarea variantelor patogene \u0219i probabil patogene, atunci c\u00e2nd este necesar.<\/p>\n<p>\u00a0<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->permite investigarea simultan\u0103 a unui num\u0103r foarte mare de gene;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->poate identifica variante genetice care nu sunt detectate prin testele genetice \u021bintite;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->poate cre\u0219te \u0219ansa de stabilire a unui diagnostic molecular \u00een cazurile complexe;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->este util atunci c\u00e2nd testele genetice anterioare au fost negative;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->poate reduce necesitatea efectu\u0103rii succesive a numeroase teste genetice individuale;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->contribuie la stabilirea diagnosticului etiologic;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->poate orienta managementul \u0219i monitorizarea pacientului;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->poate contribui la stabilirea prognosticului;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->permite o consiliere genetic\u0103 personalizat\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->faciliteaz\u0103 evaluarea riscului pentru membrii familiei.<\/p>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->GenomeDx este un test <strong>diagnostic<\/strong>, nu un simplu screening genetic general;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->interpretarea rezultatelor depinde de calitatea \u0219i completitudinea informa\u021biilor clinice furnizate;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->nu toate variantele genetice identificate au semnifica\u021bie clinic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->pot fi identificate variante cu semnifica\u021bie incert\u0103 (VUS);<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->un rezultat negativ nu exclude complet existen\u021ba unei boli genetice;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->anumite tipuri de modific\u0103ri genomice pot fi dificil de detectat sau interpretat prin WGS;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->unele variante pot necesita confirmare printr-o metod\u0103 independent;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->rezultatele trebuie interpretate de un medic genetician.<\/p>\n<h3>Tip de prob\u0103<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]--><strong>s\u00e2nge periferic <\/strong>(EDTA) \u2013 2 \u00d7 6 mL<\/p>\n<h3>Recoltare \u0219i condi\u021bii<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->recoltare standard conform instruc\u021biunilor Veritas;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->nu este necesar postul alimentar;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->este necesar consim\u021b\u0103m\u00e2ntul informat;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->testul trebuie prescris \u0219i interpretat \u00een context medical.<\/p>\n<h3>Denumiri alternative<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]--><strong>GenomeDx<\/strong><\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->GenomeDx \u2013 Whole Genome Sequencing;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->WGS diagnostic;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->Secven\u021bierea \u00eentregului genom;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->Whole Genome Sequencing cu interpretare diagnostic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->Diagnostic genomic WGS;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->Analiz\u0103 genomic\u0103 complete;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->Secven\u021biere genomic\u0103 pentru boli rare;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->WGS pentru diagnostic genetic;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->GenomeDx TRIO \u2013 analiz\u0103 pacient + p\u0103rin\u021bi.<\/p>\n<h3>Analize asociate recomandate<\/h3>\n<h3>\u00cen func\u021bie de tabloul clinic \u0219i indica\u021bia medical\u0103, pot fi recomandate anterior sau complementar:<\/h3>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->cariotip;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->array CGH, cariotip molecular;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->paneluri genetice \u021bintite;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->secven\u021bierea exomului (WES);<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->analize metabolice specific;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->investiga\u021bii biochimice \u0219i hematologice;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->investiga\u021bii imagistice specifice fenotipului;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->evaluare neurologic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->evaluare cardiologic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->evaluare endocrinologic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->evaluare nefrologic\u0103;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->consult genetic clinic;<\/p>\n<p><!-- [if !supportLists]-->\u00b7\u00a0<!--[endif]-->testarea genetic\u0103 a p\u0103rin\u021bilor.<\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>GenomeDx<\/strong>\u00a0este un serviciu de diagnostic genetic bazat pe <strong>secven\u021bierea \u00eentregului genom (Whole Genome Sequencing \u2013 WGS)<\/strong>\u00a0\u0219i interpretarea clinic\u0103 a datelor genomice \u00een func\u021bie de istoricul medical, semnele \u0219i simptomele pacientului.<\/p>\n<p>Analiza este destinat\u0103 \u00een special pacien\u021bilor cu <strong>istoric medical complex sau suspiciune de boal\u0103 genetic\u0103<\/strong>, inclusiv cazurilor \u00een care investiga\u021biile genetice anterioare au fost negative sau nu au identificat cauza afec\u021biunii. Interpretarea este orientat\u0103 c\u0103tre identificarea variantelor genetice relevante pentru tabloul clinic \u0219i poate contribui la stabilirea diagnosticului, prognosticului \u0219i conduitei medicale.<\/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-122008","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","shipping-taxable","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=\"GenomeDx este un serviciu de diagnostic genetic bazat pe secven\u021bierea \u00eentregului genom (Whole Genome Sequencing \u2013 WGS) \u0219i interpretarea clinic\u0103 a datelor genomice \u00een func\u021bie de istoricul medical, semnele \u0219i simptomele pacientului. Analiza este destinat\u0103 \u00een special pacien\u021bilor cu istoric medical complex sau suspiciune de boal\u0103 genetic\u0103, inclusiv cazurilor \u00een care investiga\u021biile genetice anterioare au fost negative sau nu au identificat cauza afec\u021biunii. 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Analiza este destinat\u0103 \u00een special pacien\u021bilor cu istoric medical complex sau suspiciune de boal\u0103 genetic\u0103, inclusiv cazurilor \u00een care investiga\u021biile genetice anterioare au fost negative sau nu au identificat cauza afec\u021biunii. 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Interpretarea este orientat\u0103 c\u0103tre identificarea variantelor genetice relevante pentru tabloul clinic \u0219i poate contribui la stabilirea diagnosticului, prognosticului \u0219i conduitei medicale."},"aioseo_meta_data":{"post_id":"122008","title":null,"description":null,"keywords":null,"keyphrases":{"focus":[],"additional":[]},"primary_term":null,"canonical_url":null,"og_title":null,"og_description":null,"og_object_type":"default","og_image_type":"default","og_image_url":null,"og_image_width":null,"og_image_height":null,"og_image_custom_url":null,"og_image_custom_fields":null,"og_video":null,"og_custom_url":null,"og_article_section":null,"og_article_tags":null,"twitter_use_og":false,"twitter_card":"default","twitter_image_type":"default","twitter_image_url":null,"twitter_image_custom_url":null,"twitter_image_custom_fields":null,"twitter_title":null,"twitter_description":null,"schema":{"blockGraphs":[],"customGraphs":[],"default":{"data":{"Article":[],"Course":[],"Dataset":[],"FAQPage":[],"Movie":[],"Person":[],"Product":[],"ProductReview":[],"Car":[],"Recipe":[],"Service":[],"SoftwareApplication":[],"WebPage":[]},"graphName":"","isEnabled":true},"graphs":[]},"schema_type":"default","schema_type_options":null,"pillar_content":false,"robots_default":true,"robots_noindex":false,"robots_noarchive":false,"robots_nosnippet":false,"robots_nofollow":false,"robots_noimageindex":false,"robots_noodp":false,"robots_notranslate":false,"robots_max_snippet":null,"robots_max_videopreview":null,"robots_max_imagepreview":"large","priority":null,"frequency":null,"local_seo":null,"seo_analyzer_scan_date":"2026-08-20 07:53:13","breadcrumb_settings":null,"limit_modified_date":false,"open_ai":null,"ai":null,"created":"2026-08-20 07:51:03","updated":"2026-08-31 21:04:25","focus_keyword":null,"additional_keywords":null,"truseo_locale":null},"aioseo_breadcrumb":"<div class=\"aioseo-breadcrumbs\"><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/www.clinica-sante.com\/ro\" title=\"Prima pagin\u0103\">Prima pagin\u0103<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/www.clinica-sante.com\/ro\/analize-medicale\/\" title=\"Analize Medicale\">Analize Medicale<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/www.clinica-sante.com\/ro\/analize\/\" title=\"Analize\">Analize<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/\" title=\"Serviciu laborator\">Serviciu laborator<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/\" title=\"Diagnostic genetic\">Diagnostic genetic<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\tGenome DX-WGS (whole genome sequencing)\n<\/span><\/div>","aioseo_breadcrumb_json":[{"label":"Prima pagin\u0103","link":"https:\/\/www.clinica-sante.com\/ro"},{"label":"Analize Medicale","link":"https:\/\/www.clinica-sante.com\/ro\/analize-medicale\/"},{"label":"Analize","link":"https:\/\/www.clinica-sante.com\/ro\/analize\/"},{"label":"Serviciu laborator","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/"},{"label":"Diagnostic genetic","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/"},{"label":"Genome DX-WGS (whole genome sequencing)","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/genome-dx-wgs-whole-genome-sequencing\/"}],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/122008","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=122008"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=122008"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=122008"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=122008"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}