{"id":26586,"date":"2025-06-24T15:10:26","date_gmt":"2025-06-24T12:10:26","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/"},"modified":"2026-06-19T18:30:55","modified_gmt":"2026-06-19T15:30:55","slug":"testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/","title":{"rendered":"Testare genetica tintita (mutatie punctiforma &#8211; secventiere Sanger) &#8211; Carrier testing Sanger (point mutation)"},"content":{"rendered":"<p>Testarea genetic\u0103 \u021bintit\u0103 prin <strong>secven\u021biere Sanger<\/strong> este o metod\u0103 clasic\u0103, de \u00eenalt\u0103 acurate\u021be, utilizat\u0103 pentru identificarea unei <strong>variante genetice punctiforme (SNV \u2013 Single Nucleotide Variant)<\/strong> deja cunoscute.<\/p>\n<p>Analiza se concentreaz\u0103 exclusiv pe regiunea ADN unde a fost descris\u0103 muta\u021bia familial\u0103 sau clinic relevant\u0103, f\u0103r\u0103 a explora \u00eentregul genom sau \u00eentreaga gen\u0103.<\/p>\n<p>Metoda Sanger este considerat\u0103 standard de aur pentru confirmarea variantelor genetice punctuale datorit\u0103:<\/p>\n<ul>\n<li>preciziei foarte ridicate,<\/li>\n<li>ratei sc\u0103zute de eroare,<\/li>\n<li>capacit\u0103\u021bii de confirmare a variantelor identificate prin metode NGS.<\/li>\n<\/ul>\n<h3>Testul este utilizat frecvent \u00een:<\/h3>\n<ul>\n<li>boli genetice monogenice,<\/li>\n<li>boli autozomal dominante sau recesive,<\/li>\n<li>boli X-linkate,<\/li>\n<li>sindroame genetice rare,<\/li>\n<li>evaluarea purt\u0103torilor s\u0103n\u0103to\u0219i (carrier testing),<\/li>\n<li>screening familial (cascade testing),<\/li>\n<li>consiliere genetic\u0103 reproductiv\u0103.<\/li>\n<\/ul>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Confirmarea unei muta\u021bii punctiforme cunoscute \u00een familie<\/li>\n<li>Testare de tip carrier (purt\u0103tor s\u0103n\u0103tos)<\/li>\n<li>Evaluare risc genetic pentru descenden\u021bi<\/li>\n<li>Screening familial direc\u021bionat (cascade testing)<\/li>\n<li>Consiliere genetic\u0103 preconcep\u021bional\u0103<\/li>\n<li>Confirmarea unei variante identificate anterior prin NGS sau alte metode<\/li>\n<li>Diagnosticul molecular al unei boli monogenice cunoscute<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Rudele persoanelor cu muta\u021bii genetice confirmate<\/li>\n<li>Cuplurilor care planific\u0103 o sarcin\u0103<\/li>\n<li>Persoanelor cu istoric familial de boli genetice<\/li>\n<li>Pacien\u021bilor cu suspiciune de boal\u0103 monogenic\u0103<\/li>\n<li>Persoanelor asimptomatice cu risc genetic cunoscut<\/li>\n<li>Familiilor incluse \u00een programe de screening genetic<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>Extrac\u021bie ADN din s\u00e2nge periferic (EDTA)<\/li>\n<li>Amplificarea regiunii \u021bintite prin PCR<\/li>\n<li><strong>Secven\u021biere Sanger bidirec\u021bional\u0103<\/strong> a regiunii de interes<\/li>\n<li>Compararea secven\u021bei ob\u021binute cu secven\u021ba de referin\u021b\u0103<\/li>\n<li>Identificarea prezen\u021bei sau absen\u021bei muta\u021biei punctiforme specifice<\/li>\n<li>Validare \u0219i interpretare conform ghidurilor ACMG<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Detectare precis\u0103 a unei muta\u021bii genetice cunoscute<\/li>\n<li>Metod\u0103 standard de confirmare a variantelor punctiforme<\/li>\n<li>Util \u00een consilierea genetic\u0103 familial\u0103<\/li>\n<li>Permite identificarea persoanelor purt\u0103toare s\u0103n\u0103toase<\/li>\n<li>Sprijin\u0103 deciziile reproductive informate<\/li>\n<li>Poate evita testarea genomic\u0103 extins\u0103 atunci c\u00e2nd varianta familial\u0103 este deja cunoscut\u0103<\/li>\n<li>Cost \u0219i complexitate mai reduse comparativ cu NGS<\/li>\n<li>Rezultat clar \u0219i u\u0219or de interpretat (prezent\/absent)<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>\u00cen func\u021bie de contextul genetic<\/h3>\n<ul>\n<li>Panel genetic complet al genei implicate<\/li>\n<li>NGS extins pentru boli monogenice<\/li>\n<li>MLPA pentru dele\u021bii\/duplica\u021bii (dac\u0103 este indicat)<\/li>\n<li>Testare familial\u0103 \u00een cascad\u0103<\/li>\n<li>Consiliere genetic\u0103 pre \u0219i post-testare<\/li>\n<\/ul>\n<h3>\u00cen context reproductiv<\/h3>\n<ul>\n<li>Screening genetic de purt\u0103tor extins (carrier screening)<\/li>\n<li>Testare genetic\u0103 a partenerului<\/li>\n<li>Diagnostic genetic preimplanta\u021bional (PGT-M)<\/li>\n<li>Testare prenatal\u0103 \u021bintit\u0103 (CVS \/ amniocentez\u0103)<\/li>\n<\/ul>\n<h3>\u00cen context clinic<\/h3>\n<ul>\n<li>Panel genetic pentru boala suspectat\u0103<\/li>\n<li>Investiga\u021bii biochimice specifice bolii monogenice<\/li>\n<li>Evaluare clinic\u0103 de specialitate (neurologie, boli metabolice, cardiogenetic\u0103 etc.)<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<h3>S\u00e2nge total EDTA<\/h3>\n<ul>\n<li>Nu necesit\u0103 preg\u0103tire special\u0103 \u00eenainte de recoltare<\/li>\n<\/ul>\n<h3>Documente obligatorii<\/h3>\n<ul>\n<li>Identificarea exact\u0103 a muta\u021biei (HGVS recomandat)<\/li>\n<li>Raport genetic anterior (dac\u0103 exist\u0103)<\/li>\n<li>Bilet de trimitere \/ recomandare medical\u0103<\/li>\n<li>Date clinice \u0219i istoricul familial relevant<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Sanger sequencing targeted mutation test<\/li>\n<li>Carrier mutation analysis<\/li>\n<li>Single nucleotide variant (SNV) testing<\/li>\n<li>Familial mutation confirmation test<\/li>\n<li>Targeted DNA sequencing Sanger<\/li>\n<li>Known mutation carrier testing<\/li>\n<li>Cascade Sanger sequencing test<\/li>\n<li>Point mutation confirmation assay<\/li>\n<li>Predictive genetic Sanger test<\/li>\n<li>Single variant genetic confirmation<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi ale testului<\/h3>\n<p>Aceast\u0103 analiz\u0103 investigheaz\u0103 exclusiv o <strong>muta\u021bie punctiform\u0103 specific\u0103<\/strong> prin metoda <strong>secven\u021bierii Sanger<\/strong>. Nu detecteaz\u0103 alte variante genetice din aceea\u0219i gen\u0103 sau din alte gene. Un rezultat negativ exclude doar prezen\u021ba variantei testate \u0219i nu exclude alte cauze genetice ale bolii. Interpretarea trebuie realizat\u0103 \u00een context clinic \u0219i de consiliere genetic\u0103 specializat\u0103.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 molecular\u0103 de tip <strong>secven\u021biere Sanger<\/strong>, utilizat\u0103 pentru detectarea unei <strong>muta\u021bii punctiforme specifice<\/strong>, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de <strong>purt\u0103tor (carrier)<\/strong> sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.<\/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-26586","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 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/\" \/>\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 - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"Testare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:10:26+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-06-19T15:30:55+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Testare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"position\":1,\"name\":\"Prima pagin\\u0103\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"position\":2,\"name\":\"Analize Medicale\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"name\":\"Prima pagin\\u0103\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"position\":3,\"name\":\"Analize\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"name\":\"Serviciu laborator\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"position\":4,\"name\":\"Serviciu laborator\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/#listItem\",\"name\":\"Diagnostic genetic\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/#listItem\",\"position\":5,\"name\":\"Diagnostic genetic\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#listItem\",\"name\":\"Testare genetica tintita (mutatie punctiforma &#8211; secventiere Sanger) &#8211; Carrier testing Sanger (point mutation)\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"name\":\"Serviciu laborator\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#listItem\",\"position\":6,\"name\":\"Testare genetica tintita (mutatie punctiforma &#8211; secventiere Sanger) &#8211; Carrier testing Sanger (point mutation)\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/#listItem\",\"name\":\"Diagnostic genetic\"}}]},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/#organization\",\"name\":\"Clinica Sante - Laborator de Analize Medicale\",\"description\":\"Clinica Sante - Laborator de Analize Medicale Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\",\"url\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/\",\"telephone\":\"+40376448099\",\"logo\":{\"@type\":\"ImageObject\",\"url\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/wp-content\\\/uploads\\\/2024\\\/04\\\/Necesar-website-nou-CS-Romania_Logo-1024x1024-1.png\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#organizationLogo\",\"width\":1024,\"height\":1024},\"image\":{\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#organizationLogo\"}},{\"@type\":\"Product\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#wooCommerceProduct\",\"name\":\"Testare genetica tintita (mutatie punctiforma - secventiere Sanger) - Carrier testing Sanger (point mutation)\",\"description\":\"Analiz\\u0103 genetic\\u0103 molecular\\u0103 de tip secven\\u021biere Sanger, utilizat\\u0103 pentru detectarea unei muta\\u021bii punctiforme specifice, cunoscute anterior \\u00een familie sau \\u00een context clinic. Testul stabile\\u0219te statutul de purt\\u0103tor (carrier) sau afectat pentru o variant\\u0103 genetic\\u0103 definit\\u0103.\",\"url\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/\",\"sku\":\"8480\",\"offers\":{\"@type\":\"Offer\",\"url\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#wooCommerceOffer\",\"price\":1760,\"priceCurrency\":\"RON\",\"category\":\"Analize\",\"availability\":\"https:\\\/\\\/schema.org\\\/InStock\",\"priceSpecification\":{\"@type\":\"PriceSpecification\",\"price\":1760,\"priceCurrency\":\"RON\"},\"seller\":{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/#organization\"}}},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#webpage\",\"url\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/\",\"name\":\"Testare genetica tintita (mutatie punctiforma \\u2013 secventiere Sanger) \\u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale\",\"description\":\"Analiz\\u0103 genetic\\u0103 molecular\\u0103 de tip secven\\u021biere Sanger, utilizat\\u0103 pentru detectarea unei muta\\u021bii punctiforme specifice, cunoscute anterior \\u00een familie sau \\u00een context clinic. Testul stabile\\u0219te statutul de purt\\u0103tor (carrier) sau afectat pentru o variant\\u0103 genetic\\u0103 definit\\u0103.\",\"inLanguage\":\"ro-RO\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/#website\"},\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\\\/#breadcrumblist\"},\"datePublished\":\"2025-06-24T15:10:26+03:00\",\"dateModified\":\"2026-06-19T18:30:55+03:00\"},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/#website\",\"url\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/\",\"name\":\"Clinica Sante - Laborator de Analize Medicale\",\"alternateName\":\"CLINICA SANTE ROMANIA\",\"description\":\"Clinica Sante - Laborator de Analize Medicale\",\"inLanguage\":\"ro-RO\",\"publisher\":{\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/#organization\"}}]}\n\t\t<\/script>\n\t\t<!-- All in One SEO Pro -->\r\n\t\t<title>Testare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale<\/title>\n\n","aioseo_head_json":{"title":"Testare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale","description":"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.","canonical_url":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/","robots":"max-image-preview:large","keywords":"","webmasterTools":{"miscellaneous":""},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"BreadcrumbList","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#breadcrumblist","itemListElement":[{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro#listItem","position":1,"name":"Prima pagin\u0103","item":"https:\/\/www.clinica-sante.com\/ro","nextItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-medicale\/#listItem","name":"Analize Medicale"}},{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-medicale\/#listItem","position":2,"name":"Analize Medicale","item":"https:\/\/www.clinica-sante.com\/ro\/analize-medicale\/","nextItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize\/#listItem","name":"Analize"},"previousItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro#listItem","name":"Prima pagin\u0103"}},{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize\/#listItem","position":3,"name":"Analize","item":"https:\/\/www.clinica-sante.com\/ro\/analize\/","nextItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/#listItem","name":"Serviciu laborator"},"previousItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-medicale\/#listItem","name":"Analize Medicale"}},{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/#listItem","position":4,"name":"Serviciu laborator","item":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/","nextItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/#listItem","name":"Diagnostic genetic"},"previousItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize\/#listItem","name":"Analize"}},{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/#listItem","position":5,"name":"Diagnostic genetic","item":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/","nextItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#listItem","name":"Testare genetica tintita (mutatie punctiforma &#8211; secventiere Sanger) &#8211; Carrier testing Sanger (point mutation)"},"previousItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/#listItem","name":"Serviciu laborator"}},{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#listItem","position":6,"name":"Testare genetica tintita (mutatie punctiforma &#8211; secventiere Sanger) &#8211; Carrier testing Sanger (point mutation)","previousItem":{"@type":"ListItem","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/#listItem","name":"Diagnostic genetic"}}]},{"@type":"Organization","@id":"https:\/\/www.clinica-sante.com\/ro\/#organization","name":"Clinica Sante - Laborator de Analize Medicale","description":"Clinica Sante - Laborator de Analize Medicale Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale","url":"https:\/\/www.clinica-sante.com\/ro\/","telephone":"+40376448099","logo":{"@type":"ImageObject","url":"https:\/\/www.clinica-sante.com\/ro\/wp-content\/uploads\/2024\/04\/Necesar-website-nou-CS-Romania_Logo-1024x1024-1.png","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#organizationLogo","width":1024,"height":1024},"image":{"@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#organizationLogo"}},{"@type":"Product","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#wooCommerceProduct","name":"Testare genetica tintita (mutatie punctiforma - secventiere Sanger) - Carrier testing Sanger (point mutation)","description":"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.","url":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/","sku":"8480","offers":{"@type":"Offer","url":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#wooCommerceOffer","price":1760,"priceCurrency":"RON","category":"Analize","availability":"https:\/\/schema.org\/InStock","priceSpecification":{"@type":"PriceSpecification","price":1760,"priceCurrency":"RON"},"seller":{"@type":"Organization","@id":"https:\/\/www.clinica-sante.com\/ro\/#organization"}}},{"@type":"WebPage","@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#webpage","url":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/","name":"Testare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale","description":"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.","inLanguage":"ro-RO","isPartOf":{"@id":"https:\/\/www.clinica-sante.com\/ro\/#website"},"breadcrumb":{"@id":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/#breadcrumblist"},"datePublished":"2025-06-24T15:10:26+03:00","dateModified":"2026-06-19T18:30:55+03:00"},{"@type":"WebSite","@id":"https:\/\/www.clinica-sante.com\/ro\/#website","url":"https:\/\/www.clinica-sante.com\/ro\/","name":"Clinica Sante - Laborator de Analize Medicale","alternateName":"CLINICA SANTE ROMANIA","description":"Clinica Sante - Laborator de Analize Medicale","inLanguage":"ro-RO","publisher":{"@id":"https:\/\/www.clinica-sante.com\/ro\/#organization"}}]},"og:locale":"ro_RO","og:site_name":"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale","og:type":"article","og:title":"Testare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale","og:description":"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103.","og:url":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/","article:published_time":"2025-06-24T12:10:26+00:00","article:modified_time":"2026-06-19T15:30:55+00:00","twitter:card":"summary_large_image","twitter:title":"Testare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation) - Clinica Sante - Laborator de Analize Medicale","twitter:description":"Analiz\u0103 genetic\u0103 molecular\u0103 de tip secven\u021biere Sanger, utilizat\u0103 pentru detectarea unei muta\u021bii punctiforme specifice, cunoscute anterior \u00een familie sau \u00een context clinic. Testul stabile\u0219te statutul de purt\u0103tor (carrier) sau afectat pentru o variant\u0103 genetic\u0103 definit\u0103."},"aioseo_meta_data":{"post_id":"26586","title":null,"description":null,"keywords":null,"keyphrases":null,"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":"2026-06-19 15:38:19","breadcrumb_settings":null,"limit_modified_date":false,"open_ai":null,"ai":null,"created":"2025-06-24 12:34:41","updated":"2026-06-19 15:52:09","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\tTestare genetica tintita (mutatie punctiforma \u2013 secventiere Sanger) \u2013 Carrier testing Sanger (point mutation)\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":"Testare genetica tintita (mutatie punctiforma &#8211; secventiere Sanger) &#8211; Carrier testing Sanger (point mutation)","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-genetica-tintita-mutatie-punctiforma-secventiere-sanger-carrier-testing-sanger-point-mutation\/"}],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/26586","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=26586"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26586"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26586"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26586"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}