{"id":27685,"date":"2025-06-24T16:48:59","date_gmt":"2025-06-24T13:48:59","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-mutatie-tintita-prenatal\/"},"modified":"2026-06-16T15:21:19","modified_gmt":"2026-06-16T12:21:19","slug":"testare-mutatie-tintita-prenatal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/testare-mutatie-tintita-prenatal\/","title":{"rendered":"Testare mutatie tintita prenatal"},"content":{"rendered":"<p>Testul permite identificarea unei variante genetice punctuale (sau a unui set restr\u00e2ns de muta\u021bii cunoscute) \u00een ADN-ul fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale.<\/p>\n<p>Analiza este utilizat\u0103 atunci c\u00e2nd muta\u021bia familial\u0103 este deja cunoscut\u0103 (de exemplu \u00een urma test\u0103rii p\u0103rin\u021bilor sau a unui copil anterior afectat) \u0219i se dore\u0219te confirmarea sau excluderea transmiterii acesteia la f\u0103t.<\/p>\n<p>Metoda are o acurate\u021be foarte ridicat\u0103, fiind direc\u021bionat\u0103 exclusiv c\u0103tre regiunea genetic\u0103 de interes, f\u0103r\u0103 necesitatea unui panel extins.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Boli monogenice cunoscute \u00een familie (autosomale dominante, recesive sau legate de X);<\/li>\n<li>Afec\u021biuni neuromusculare (ex. distrofii, atrofii musculare);<\/li>\n<li>Boli metabolice ereditare;<\/li>\n<li>Sindroame genetice cu muta\u021bie identificat\u0103 anterior la p\u0103rinte sau rud\u0103;<\/li>\n<li>Afec\u021biuni rare cu variant\u0103 genetic\u0103 familial\u0103 documentat\u0103;<\/li>\n<li>Confirmarea statusului de purt\u0103tor sau afectare fetal\u0103.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor ginecologi, speciali\u0219tilor \u00een medicin\u0103 materno-fetal\u0103 \u0219i geneticienilor medicali care gestioneaz\u0103 sarcini cu risc genetic cunoscut sau familii cu istoric de boli monogenice confirmate.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiz\u0103 molecular\u0103 \u021bintit\u0103 realizat\u0103 prin secven\u021biere NGS focalizat\u0103, PCR specific sau alte metode de detec\u021bie molecular\u0103, \u00een func\u021bie de tipul muta\u021biei cunoscute.<\/p>\n<p>Testul este proiectat pentru identificarea precis\u0103 a unei muta\u021bii sau a unui num\u0103r limitat de variante genetice definite anterior.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Confirm\u0103 sau exclude prezen\u021ba unei muta\u021bii familiale cunoscute la f\u0103t;<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru consilierea genetic\u0103 prenatal\u0103;<\/li>\n<li>Permite decizii medicale informate privind monitorizarea sarcinii;<\/li>\n<li>Metod\u0103 rapid\u0103 \u0219i extrem de specific\u0103, cu sensibilitate ridicat\u0103;<\/li>\n<li>Reduce necesitatea test\u0103rilor genetice extinse atunci c\u00e2nd riscul este bine definit.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analiza detecteaz\u0103 exclusiv muta\u021bia\/muta\u021biile specific indicate \u2013 nu investigheaz\u0103 \u00eentreg genomul;<\/li>\n<li>Nu exclude alte patologii genetice neincluse \u00een test;<\/li>\n<li>Necesit\u0103 cunoa\u0219terea exact\u0103 a variantei genetice familiale;<\/li>\n<li>Interpretarea trebuie corelat\u0103 cu istoricul familial \u0219i datele ecografice;<\/li>\n<li>Rezultatul este limitat la regiunea genomic\u0103 analizat\u0103.<\/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>Proba se ob\u021bine prin proceduri invazive standard (amniocentez\u0103 sau biopsie de vilozit\u0103\u021bi coriale), \u00een condi\u021bii sterile, de c\u0103tre medic specialist, \u0219i este transportat\u0103 rapid la laborator conform protocolului de stabilitate ADN.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Este esen\u021bial\u0103 calitatea probei \u0219i evitarea contamin\u0103rii materne pentru acurate\u021bea rezultatului. Testul necesit\u0103 corelare exact\u0103 cu muta\u021bia \u021bint\u0103 documentat\u0103 anterior.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test prenatal pentru muta\u021bie familial\u0103 cunoscut\u0103;<\/p>\n<p>Analiz\u0103 genetic\u0103 fetal\u0103 \u021bintit\u0103;<\/p>\n<p>Testare ADN fetal pentru variant\u0103 specific\u0103;<\/p>\n<p>Diagnosticul prenatal al unei muta\u021bii familiale.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Testare genetic\u0103 parental\u0103 (confirmarea muta\u021biei familiale);<\/li>\n<li>Panel NGS prenatal extins \u00een caz de suspiciuni multiple;<\/li>\n<li>Cariotip fetal \u0219i\/sau microarray genomic pentru evaluare structural\u0103;<\/li>\n<li>Ecografie morfologic\u0103 fetal\u0103 detaliat\u0103;<\/li>\n<li>Consiliere genetic\u0103 \u00eenainte \u0219i dup\u0103 testare pentru interpretarea riscului.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 prenatal\u0103 de \u00eenalt\u0103 precizie, realizat\u0103 prin metode moleculare, destinat\u0103 detect\u0103rii unei muta\u021bii specifice cunoscute sau suspectate la f\u0103t, \u00een context de risc genetic familial sau diagnostic prenatal direc\u021bionat.<\/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-27685","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=\"Testare muta\u021bie \u021bintit\u0103 prenatal - analiz\u0103 genetic\u0103 realizat\u0103 \u00een sarcin\u0103 pentru verificarea unei muta\u021bii cunoscute \u00een familie. 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