{"id":27274,"date":"2025-06-24T15:52:15","date_gmt":"2025-06-24T12:52:15","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/fibroza-chistica-detectia-celor-mai-frecvente-36-mutatii-in-gena-cftr\/"},"modified":"2026-02-27T18:00:14","modified_gmt":"2026-02-27T16:00:14","slug":"fibroza-chistica-detectia-celor-mai-frecvente-36-mutatii-in-gena-cftr","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/fibroza-chistica-detectia-celor-mai-frecvente-36-mutatii-in-gena-cftr\/","title":{"rendered":"Fibroza chistica &#8211; detectia celor mai frecvente 36 mutatii in gena CFTR"},"content":{"rendered":"<p>Testarea genetic\u0103 vizeaz\u0103 identificarea muta\u021biilor patogene \u00een gena <strong>CFTR<\/strong>, responsabile de apari\u021bia Fibrozei chistice. Panelul analizat include <strong>36 dintre cele mai frecvente muta\u021bii<\/strong>, inclusiv varianta <strong>F508del<\/strong>, \u00eent\u00e2lnit\u0103 la aproximativ <strong>70%<\/strong> dintre cazurile de Fibroz\u0103 chistic\u0103. Testarea permite stabilirea statusului molecular al pacientului (genotip <strong>normal<\/strong>, <strong>heterozigot<\/strong> sau <strong>homozigot<\/strong> mutant) <strong>pentru variantele testate<\/strong>.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni \u0219i simptome asociate<\/strong><\/p>\n<p>Fibroza chistic\u0103 afecteaz\u0103 \u00een principal pl\u0103m\u00e2nii \u0219i pancreasul, dar \u0219i alte organe \u0219i sisteme.<\/p>\n<\/p>\n<p><u>Manifestari respiratorii:<\/u><\/p>\n<ul>\n<li>tuse persistenta cu expectoratie groasa, vascoasa<\/li>\n<li>infectii respiratorii repetate (sinuzite, bronsite, pneumonii)<\/li>\n<li>dificultati de respiratie, oboseala la efort sau in repaus<\/li>\n<\/ul>\n<p><u>Manifestari digestive:<\/u><\/p>\n<ul>\n<li>deficit de crestere, malnutritie<\/li>\n<li>scaune uleioase, mai ales dup\u0103 consumul de alimente grase<\/li>\n<li>constipatie cronica, uneori cu risc de aparitie a prolapsului rectal<\/li>\n<li>balonare, disconfort sau dureri abdominale<\/li>\n<li>pancreatita<\/li>\n<li>la nou-nascut poate sa apara obstructia de intestin subtire numita ileus meconial<\/li>\n<\/ul>\n<p><u>Alte manifestari:<\/u><\/p>\n<ul>\n<li>Transpiratie abundenta si sarata (parintii sau pacientii pot sesiza gustul sarat al transpira\u021biei, hainele pot ramane impregnate cu sare)<\/li>\n<li>Diabet zaharat<\/li>\n<li>Infertilitate sau hipofertilitate<\/li>\n<\/ul>\n<p>Pacientii cu Fibroza chistica pot avea simptome diferite si grade diferite de severitatea.<\/p>\n<\/p>\n<p><strong>Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<\/p>\n<p>Testarea genetic\u0103 pentru fibroza chistic\u0103 este recomandat\u0103:<\/p>\n<\/p>\n<ul>\n<li><strong>Nou-n\u0103scu\u021bilor \u0219i copiilor<\/strong> cu suspiciune clinic\u0103 de Fibroza chistica.<\/li>\n<li><strong>Cazurilor prenatale<\/strong> cu markeri ecografici sugestivi (ex.: intestin hiperecogen, intestin dilatat, vezica biliar\u0103 nevizualizabil\u0103) sau c\u00e2nd ambii p\u0103rin\u021bi sunt purt\u0103tori cunoscuti de muta\u021bii CFTR.<\/li>\n<li><strong>Cuplurilor<\/strong>, pentru stabilirea statusului de purt\u0103tor, util \u00een planificarea familial\u0103 \u0219i estimarea riscului reproductiv.<\/li>\n<li><strong>Familiilor cu istoric<\/strong> de Fibroz\u0103 chistic\u0103, medicul genetician va identifica persoanele la risc care necesita testare genetica.<\/li>\n<li><strong>B\u0103rba\u021bilor cu azoospermie obstructiv\u0103<\/strong>.<\/li>\n<li><strong>Pacien\u021bilor cu manifestari ce pot indica o forma atipica de Fibroza chistica<\/strong>: pancreatite recurente, sinuzite recurente, polipoza nazala, hipofertilitate.<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<p>PCR+analiza de fragmente<\/p>\n<\/p>\n<p><strong>Muta\u021bii testate (list\u0103 complet\u0103):<\/strong><\/p>\n<p>3120+1G&gt;A, 711+1G&gt;T, 621+1G&gt;T, 1717-1G&gt;A, CFTRdele2,3(21kb), 3849+10kbC&gt;T, 2789+5G&gt;A, 1898+1G&gt;A, G542X, G85E, Y1092X(C&gt;A), G551D, R553X, 3659delC, N1303K, R560T, R117H, R1162X, L1077P, R1066C, R117C, L1065P, W1282X, R347H, R347P, I507del, T338I, F508del, I336K, 1677delTA, R334W, 3272-26A&gt;G, 1078delT, 2183AA&gt;G, 2184insA, 2143delT, polimorfismul IVS8-Poli T: 5T (9\u201313TG), 7T, 9T.<\/p>\n<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Confirmarea diagnosticului de fibroz\u0103 chistic\u0103.<\/li>\n<li>Stabilirea eligibilitatii pentru terapia cu modulatori CFTR <\/li>\n<li>Stabilirea statusului de purt\u0103tor pentru risc reproductiv.<\/li>\n<li>Acordare sfatului genetic cu stabilirea riscului de recurenta, identificarea altor membri din familie la risc.<\/li>\n<li>Management reproductiv -pentru barbatii cu infertilitate cauzata de mutatii CFTR<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>Sunt descrise peste 1500 de muta\u021bii ale genei CFTR; panelul curent acoper\u0103 36 de variante frecvente in populatia caucaziana<\/li>\n<li>Un rezultat negativ nu exclude complet boala (muta\u021bii rare\/nedetectate de panel).<\/li>\n<li>Rezultatele trebuie interpretate de medicul genetician, \u00een context clinic \u0219i familial.<\/li>\n<\/ul>\n<p><strong>Recoltare<\/strong><\/p>\n<\/p>\n<p>Proba utilizat\u0103 este <strong>s\u00e2ngele venos<\/strong>. \u00cen suspiciunile prenatale, analiza se poate realiza din <strong>lichid amniotic<\/strong> sau <strong>vilozit\u0103\u021bi coriale<\/strong>, conform indica\u021biei medicului.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Fibroza chistic\u0103 (mucoviscidoza) este cea mai frecvent\u0103 boal\u0103 monogenic\u0103 in randul populatiei de origine caucaziana. Este o afec\u021biune cronic\u0103, multisistemic\u0103, determinat\u0103 de muta\u021bii la nivelul genei <strong>CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)<\/strong>. <\/p>\n<\/p>\n<p>Boala afecteaz\u0103 celulele care produc mucus, transpira\u021bie \u0219i sucuri digestive. Aceste secre\u021bii, la persoanele afectate, devin dense \u0219i v\u00e2scoase, determinand obstruc\u021bia c\u0103ilor respiratorii \u0219i digestive.<\/p>\n<\/p>\n<p>\u00cen prezent, <strong>aproximativ jum\u0103tate<\/strong> dintre pacien\u021bii cu fibroz\u0103 chistic\u0103 pot beneficia de <strong>terapie personalizat\u0103 cu modulatori CFTR<\/strong>, substan\u021be care restaureaz\u0103 sau \u00eembun\u0103t\u0103\u021besc func\u021bionalitatea \u0219i stabilitatea proteinei CFTR.<\/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-27274","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","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\/27274","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=27274"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27274"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27274"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27274"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}