{"id":27320,"date":"2025-06-24T15:54:45","date_gmt":"2025-06-24T12:54:45","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-mutatii-tintite-prenatal-2-mutatii\/"},"modified":"2026-06-16T15:23:10","modified_gmt":"2026-06-16T12:23:10","slug":"testare-mutatii-tintite-prenatal-2-mutatii","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/testare-mutatii-tintite-prenatal-2-mutatii\/","title":{"rendered":"Testare mutatii tintite prenatal (2 mutatii)"},"content":{"rendered":"<p>Testul permite identificarea a dou\u0103 variante genetice punctuale (sau dou\u0103 muta\u021bii definite anterior) \u00een ADN-ul fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale.<\/p>\n<p>Este utilizat \u00een situa\u021bii \u00een care ambii p\u0103rin\u021bi sunt purt\u0103tori ai unor muta\u021bii cunoscute sau exist\u0103 un istoric familial clar de boal\u0103 monogenic\u0103, iar riscul fetal este bine definit.<\/p>\n<p>Analiza este strict orientat\u0103 c\u0103tre cele dou\u0103 regiuni genetice de interes, f\u0103r\u0103 a evalua \u00eentregul genom sau alte gene.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Boli monogenice autosomal recesive (ex. fibroza chistic\u0103, talasemii, boli metabolice);<\/li>\n<li>Boli autosomal dominante cu dou\u0103 variante familiale de interes;<\/li>\n<li>Afec\u021biuni legate de cromozomul X cu muta\u021bii cunoscute;<\/li>\n<li>Boli genetice rare cu dou\u0103 variante patogene familiale identificate;<\/li>\n<li>Status fetal: afectat, purt\u0103tor sau heterozigot compus, \u00een func\u021bie de modelul de transmitere;<\/li>\n<li>Confirmarea transmiterii muta\u021biilor parentale la f\u0103t.<\/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, \u00een familii cu dou\u0103 muta\u021bii identificate anterior.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiz\u0103 molecular\u0103 \u021bintit\u0103 realizat\u0103 prin tehnici NGS focalizate, PCR specific sau alte metode de detec\u021bie genetic\u0103 de \u00eenalt\u0103 sensibilitate.<\/p>\n<p>Testul este conceput pentru identificarea precis\u0103 a dou\u0103 muta\u021bii definite anterior, cu analiz\u0103 direc\u021bionat\u0103 strict pe aceste regiuni genomice.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Confirm\u0103 sau exclude prezen\u021ba a dou\u0103 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 evaluarea riscului de boal\u0103 genetic\u0103 manifest\u0103 sau status de purt\u0103tor;<\/li>\n<li>Metod\u0103 rapid\u0103 \u0219i precis\u0103 \u00een context de risc genetic bine definit;<\/li>\n<li>Sus\u021bine deciziile medicale privind monitorizarea \u0219i conduita sarcinii.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analizeaz\u0103 exclusiv cele dou\u0103 muta\u021bii specificate \u2013 nu investigheaz\u0103 alte gene;<\/li>\n<li>Nu exclude alte patologii genetice neincluse \u00een test;<\/li>\n<li>Necesit\u0103 cunoa\u0219terea exact\u0103 a muta\u021biilor parentale sau familiale;<\/li>\n<li>Nu ofer\u0103 informa\u021bii despre riscuri genetice suplimentare;<\/li>\n<li>Rezultatul trebuie corelat cu istoricul familial \u0219i datele clinice.<\/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 prin amniocentez\u0103 sau biopsie de vilozit\u0103\u021bi coriale, \u00een condi\u021bii sterile, de c\u0103tre medic specialist, cu transport rapid al probei c\u0103tre laborator.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Calitatea ADN-ului fetal \u0219i evitarea contamin\u0103rii sunt esen\u021biale pentru acurate\u021bea rezultatului. Testul necesit\u0103 corelare exact\u0103 cu muta\u021biile definite anterior \u00een familie.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test prenatal pentru 2 muta\u021bii familiale; Analiz\u0103 genetic\u0103 fetal\u0103 \u021bintit\u0103 dubl\u0103; Testare ADN fetal pentru dou\u0103 variante specifice; Diagnosticul prenatal al muta\u021biilor familiale cunoscute (2 variante).<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Testare genetic\u0103 parental\u0103 (confirmare muta\u021bii familiale);<\/li>\n<li>Panel NGS prenatal extins \u00een caz de suspiciuni multiple;<\/li>\n<li>Cariotip fetal \u0219i\/sau microarray genomic;<\/li>\n<li>Testare muta\u021bii \u021bintite extinse (dac\u0103 exist\u0103 risc suplimentar);<\/li>\n<li>Ecografie morfologic\u0103 fetal\u0103 detaliat\u0103;<\/li>\n<li>Consiliere genetic\u0103 prenatal\u0103 \u00eenainte \u0219i dup\u0103 testare.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 prenatal\u0103 direc\u021bionat\u0103, destinat\u0103 detect\u0103rii a dou\u0103 muta\u021bii specifice cunoscute sau suspectate la f\u0103t, \u00een context de risc genetic familial sau diagnostic prenatal \u021bintit.<\/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-27320","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 prenatal\u0103 direc\u021bionat\u0103, destinat\u0103 detect\u0103rii a dou\u0103 muta\u021bii specifice cunoscute sau suspectate la f\u0103t, \u00een context de risc genetic familial sau diagnostic 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