{"id":27642,"date":"2025-06-24T15:46:47","date_gmt":"2025-06-24T13:46:47","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/screening-status-de-purtator-pentru-mutatiile-cftr-f508del-fibroza-chistica-si-gjb2-35delg-surditate-genetica\/"},"modified":"2026-02-27T18:05:20","modified_gmt":"2026-02-27T16:05:20","slug":"screening-status-de-purtator-pentru-mutatiile-cftr-f508del-fibroza-chistica-si-gjb2-35delg-surditate-genetica","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/screening-status-de-purtator-pentru-mutatiile-cftr-f508del-fibroza-chistica-si-gjb2-35delg-surditate-genetica\/","title":{"rendered":"Screening status de purtator pentru mutatiile CFTR F508del (Fibroza chistica) si GJB2 35delG (Surditate genetica)"},"content":{"rendered":"<p><strong>Fibroza chistic\u0103<\/strong> \u2013 asociat\u0103 frecvent cu varianta CFTR F508del \u2013 este o boal\u0103 genetic\u0103 recesiv\u0103, \u00een care simptomele apar doar dac\u0103 individul mo\u0219tene\u0219te muta\u021bia de la ambii p\u0103rin\u021bi. Persoanele purt\u0103toare au o singur ale\u0103 mutat\u0103 \u0219i sunt de regul\u0103 asimptomatici, dar pot transmite muta\u021bia urma\u0219ilor.<\/p>\n<\/p>\n<p>Surditatea genetic\u0103 asociat\u0103 muta\u021biei GJB2 35delG are acela\u0219i tip de mo\u0219tenire (recesiv); purt\u0103torii sunt f\u0103r\u0103 pierdere de auz, \u00eens\u0103 <strong>dac\u0103 ambii p\u0103rin\u021bi sunt purt\u0103tori<\/strong>, copilul poate fi afectat..<\/p>\n<\/p>\n<p>Testarea st\u0103rii de purt\u0103tor ajut\u0103 la planificarea familial\u0103 \u0219i la consilierea genetic\u0103.<\/p>\n<\/p>\n<p><strong>Metodologie de testare:<\/strong><\/p>\n<\/p>\n<ul>\n<li>proba utilizat\u0103: s\u00e2nge periferic total;<\/li>\n<li>se aplic\u0103 tehnica ARMS-PCR (Amplification Refractory Mutation System-PCR) pentru detectarea muta\u021biilor specifice;<\/li>\n<li>rezultatul este confirmat prin electroforez\u0103, care permite vizualizarea produsului amplificat \u0219i identificarea muta\u021biei;<\/li>\n<li>testul ofer\u0103 rezultate precise \u0219i rapide privind statutul de purt\u0103tor.<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/strong><\/p>\n<\/p>\n<ul>\n<li>identificarea purt\u0103torilor \u00eenainte de concep\u021bie sau \u00een timpul planific\u0103rii familiei;<\/li>\n<li>permite consiliere genetic\u0103 \u0219i evaluarea riscului de apari\u021bie a bolilor recesive la copii;<\/li>\n<li>ajut\u0103 la prevenirea transmiterii fibrozei chistice sau surdit\u0103\u021bii genetice;<\/li>\n<li>test rapid, precis \u0219i neinvaziv.<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/strong><\/p>\n<\/p>\n<ul>\n<li>detecteaz\u0103 doar mutatiile CFTR F508del \u0219i GJB2 35delG, alte muta\u021bii ale acestor gene nu sunt analizate;<\/li>\n<li>nu poate diagnostica boala la adul\u021bi sau copii; testul identific\u0103 doar starea de purt\u0103tor;<\/li>\n<li>\u00een cazul \u00een care ambii parteneri sunt purt\u0103tori, se recomand\u0103 consiliere genetic\u0103 suplimentar\u0103.<\/li>\n<\/ul>\n<p><strong>Recoltare \u0219i condi\u021bii:<\/strong><\/p>\n<\/p>\n<ul>\n<li>proba poate fi recoltat\u0103 \u00een orice moment al zilei;<\/li>\n<li>nu este necesar post alimentar sau preg\u0103tire special\u0103 \u00eenainte de recoltare.<\/li>\n<\/ul>\n<p>Pentru interpretarea rezultatelor de genetic\u0103, v\u0103 pute\u021bi adresa speciali\u0219tilor no\u0219tri. Ei v\u0103 pot ghida \u0219i v\u0103 pot oferi informa\u021bii suplimentare despre testele genetice din oferta noastr\u0103. Consultul genetic se poate programa at\u00e2t \u00eenainte, c\u00e2t \u0219i dup\u0103 efectuarea testului. Consultul de dup\u0103 testare este <strong>GRATUIT<\/strong> \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii indica\u021biilor terapeutice.<\/p>\n<\/p>\n<p><strong>E-mail:<\/strong> <strong><a href=\"mailto:consult.genetic@clinica-sante.ro\" rel=\"noopener noreferrer\" target=\"_blank\">consult.genetic@clinica-sante.ro<\/a> <\/strong><\/p>\n<\/p>\n<p><strong>Telefon: 0773.975.894 <\/strong><\/p>\n<\/p>\n<p><strong>Program: Luni\u2013Vineri<\/strong><\/p>\n<\/p>\n<p><strong>Orele: 8:00\u201316:30<\/strong><\/p>\n<\/p>\n<p><strong>Call Center: *8787<\/strong><\/p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Acest test molecular detecteaz\u0103 starea de purt\u0103tor pentru dou\u0103 muta\u021bii genetice importante:<\/p>\n<\/p>\n<ul>\n<li><strong>CFTR F508del<\/strong> \u2013 asociat\u0103 cu fibroza chistic\u0103, o boal\u0103 genetic\u0103 care afecteaz\u0103 pl\u0103m\u00e2nii \u0219i digestia;<\/li>\n<li><strong>GJB2 35delG<\/strong> \u2013 asociat\u0103 cu surditate congenital\u0103 de cauz\u0103 genetic\u0103.<\/li>\n<\/ul>\n<p>Analiza permite identificarea persoanelor care nu prezint\u0103 simptome, dar pot transmite muta\u021biile copiilor.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3167,2876],"product_tag":[],"class_list":["post-27642","product","type-product","status-publish","product_cat-analize","product_cat-fertilitate-infertilitate-fiv","product_cat-serviciu-laborator","pa_body-parts-plamani","pa_body-systems-sistem-respirator","pa_medical-conditions-fibroza-chistica","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27642","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=27642"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27642"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27642"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27642"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}