{"id":27329,"date":"2025-06-24T15:55:13","date_gmt":"2025-06-24T12:55:13","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-prenatala-fibroza-chistica-secventiere-gena-cftr-nu-include-mcc\/"},"modified":"2026-06-16T15:23:59","modified_gmt":"2026-06-16T12:23:59","slug":"testare-prenatala-fibroza-chistica-secventiere-gena-cftr-nu-include-mcc","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/testare-prenatala-fibroza-chistica-secventiere-gena-cftr-nu-include-mcc\/","title":{"rendered":"Testare prenatala \u2013 Fibroza chistica &#8211; secventiere gena CFTR (nu include MCC)"},"content":{"rendered":"<p>Testul presupune secven\u021bierea complet\u0103 a genei <strong>CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)<\/strong> din ADN fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale, pentru identificarea variantelor patogene asociate fibrozei chistice.<\/p>\n<p>Fibroza chistic\u0103 este o boal\u0103 genetic\u0103 autosomal recesiv\u0103 sever\u0103, caracterizat\u0103 prin afectarea sistemului respirator, digestiv \u0219i exocrin, cu debut precoce.<\/p>\n<h3>Analiza permite identificarea:<\/h3>\n<ul>\n<li>muta\u021biilor punctiforme (SNV)<\/li>\n<li>inser\u021biilor\/dele\u021biilor (indel)<\/li>\n<li>variantelor patogene, probabil patogene \u0219i uneori VUS<br \/>la nivelul genei CFTR.<\/li>\n<\/ul>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Fibroz\u0103 chistic\u0103 clasic\u0103 cu debut neonatal sau infantil;<\/li>\n<li>Forme atipice de fibroz\u0103 chistic\u0103;<\/li>\n<li>Tulbur\u0103ri de func\u021bie pancreatic\u0103 \u0219i pulmonar\u0103 de origine genetic\u0103;<\/li>\n<li>Status de purt\u0103tor heterozigot (\u00een context familial cunoscut);<\/li>\n<li>Risc genetic fetal \u00een familii cu muta\u021bii CFTR cunoscute.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor ginecologi, geneticienilor medicali \u0219i speciali\u0219tilor \u00een medicin\u0103 materno-fetal\u0103 care gestioneaz\u0103 sarcini cu risc crescut pentru fibroz\u0103 chistic\u0103, fie prin istoric familial, fie prin status de purt\u0103tor al p\u0103rin\u021bilor.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Secven\u021biere complet\u0103 a genei <strong>CFTR<\/strong> prin tehnologie NGS sau metode echivalente de secven\u021biere genetic\u0103, aplicat\u0103 pe ADN fetal.<\/p>\n<p>Analiza detecteaz\u0103 variante genetice relevante clinic din \u00eentreaga regiune codant\u0103 \u0219i regiunile intron-exon de interes ale genei CFTR.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnosticul prenatal al fibrozei chistice;<\/li>\n<li>Permite evaluarea statusului genetic fetal \u00een familiile cu risc pentru fibroz\u0103 chistic\u0103;<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru consilierea genetic\u0103 prenatal\u0103;<\/li>\n<li>Sus\u021bine deciziile medicale privind managementul sarcinii;<\/li>\n<li>Test \u021bintit, cu acurate\u021be ridicat\u0103 pentru o boal\u0103 genetic\u0103 frecvent\u0103.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Testul analizeaz\u0103 exclusiv gena CFTR \u2013 nu detecteaz\u0103 alte boli genetice;<\/li>\n<li>Nu include analiza de contaminare matern\u0103 (MCC), ceea ce poate influen\u021ba interpretarea \u00een cazuri rare de amestec ADN;<\/li>\n<li>Nu identific\u0103 \u00eentotdeauna variante rare non-codante sau rearanjamente complexe;<\/li>\n<li>Rezultatele trebuie corelate cu statusul parental de purt\u0103tor;<\/li>\n<li>Poate identifica variante VUS care necesit\u0103 interpretare suplimentar\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>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 conform protocolului de stabilitate ADN.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Este esen\u021bial\u0103 calitatea ADN-ului fetal pentru acurate\u021bea secven\u021bierii.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test prenatal CFTR; Analiz\u0103 genetic\u0103 fetal\u0103 pentru fibroz\u0103 chistic\u0103; Secven\u021biere CFTR prenatal\u0103; Diagnosticul prenatal al fibrozei chistice.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Testare genetic\u0103 parental\u0103 CFTR (carrier screening) pentru ambii p\u0103rin\u021bi;<\/li>\n<li>Panel prenatal NGS extins pentru boli monogenice;<\/li>\n<li>Cariotip fetal \u0219i\/sau microarray pentru evaluare cromozomial\u0103;<\/li>\n<li>Testare muta\u021bii \u021bintite CFTR dac\u0103 varianta familial\u0103 este cunoscut\u0103;<\/li>\n<li>Consiliere genetic\u0103 prenatal\u0103 \u00eenainte \u0219i dup\u0103 testare pentru interpretare corect\u0103 a riscului.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 prenatal\u0103 direc\u021bionat\u0103, realizat\u0103 prin secven\u021bierea genei <strong>CFTR<\/strong>, destinat\u0103 detect\u0103rii muta\u021biilor asociate fibrozei chistice la f\u0103t. Testul nu include analiza de contaminare matern\u0103 (MCC).<\/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-27329","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 4.9.10 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 prenatal\u0103 direc\u021bionat\u0103, realizat\u0103 prin secven\u021bierea genei CFTR, destinat\u0103 detect\u0103rii muta\u021biilor asociate fibrozei chistice la f\u0103t. 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