{"id":26956,"date":"2025-06-24T15:33:42","date_gmt":"2025-06-24T12:33:42","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/detectie-mutatie-f508del-fibroza-chistica\/"},"modified":"2026-06-12T14:21:13","modified_gmt":"2026-06-12T11:21:13","slug":"detectie-mutatie-f508del-fibroza-chistica","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/detectie-mutatie-f508del-fibroza-chistica\/","title":{"rendered":"Detectie mutatie F508del (Fibroza chistica)"},"content":{"rendered":"<p>Fibroza chistic\u0103 este una dintre cele mai frecvente boli genetice autosomal recesive, cauzat\u0103 de muta\u021bii \u00een gena CFTR. Muta\u021bia <strong>F508del (\u0394F508)<\/strong> reprezint\u0103 aproximativ 70% dintre alelele patologice identificate la pacien\u021bii cu fibroz\u0103 chistic\u0103 din popula\u021biile europene.<\/p>\n<p>Aceast\u0103 muta\u021bie determin\u0103 producerea unei proteine CFTR defectuoase, ceea ce duce la alterarea transportului ionilor de clor prin membranele celulare \u0219i la apari\u021bia secre\u021biilor v\u00e2scoase care afecteaz\u0103 \u00een principal:<\/p>\n<ul>\n<li>Pl\u0103m\u00e2nii<\/li>\n<li>Pancreasul<\/li>\n<li>Ficatul<\/li>\n<li>Sinusurile<\/li>\n<li>Aparatul reproduc\u0103tor<\/li>\n<\/ul>\n<p>Testul permite identificarea persoanelor purt\u0103toare \u0219i poate contribui la confirmarea diagnosticului la pacien\u021bii cu manifest\u0103ri clinice sugestive.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<h3>Se recomand\u0103 \u00een urm\u0103toarele situa\u021bii:<\/h3>\n<ul>\n<li>Screening preconcep\u021bional al purt\u0103torilor.<\/li>\n<li>Cupluri care planific\u0103 o sarcin\u0103.<\/li>\n<li>Istoric familial de fibroz\u0103 chistic\u0103.<\/li>\n<li>Partenerul unei persoane purt\u0103toare cunoscute.<\/li>\n<li>Infertilitate masculin\u0103 asociat\u0103 cu absen\u021ba congenital\u0103 bilateral\u0103 a canalelor deferente (CBAVD).<\/li>\n<li>Suspiciune clinic\u0103 de fibroz\u0103 chistic\u0103.<\/li>\n<li>Rezultat pozitiv la screeningul neonatal.<\/li>\n<li>Consiliere genetic\u0103 reproductiv\u0103.<\/li>\n<li>Evaluarea rudelor unui pacient diagnosticat cu fibroz\u0103 chistic\u0103.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Cuplurilor care doresc copii.<\/li>\n<li>Femeilor \u00eenainte de sarcin\u0103.<\/li>\n<li>B\u0103rba\u021bilor cu infertilitate de cauz\u0103 necunoscut\u0103.<\/li>\n<li>Persoanelor cu antecedente familiale de fibroz\u0103 chistic\u0103.<\/li>\n<li>Pacien\u021bilor cu manifest\u0103ri sugestive pentru boal\u0103.<\/li>\n<li>Clinicilor de fertilitate \u0219i reproducere asistat\u0103.<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<h3>Analiza se realizeaz\u0103 prin:<\/h3>\n<ul>\n<li>PCR (Polymerase Chain Reaction)<\/li>\n<\/ul>\n<h3>Rezultatul eviden\u021biaz\u0103 prezen\u021ba sau absen\u021ba muta\u021biei F508del \u0219i statutul genetic al pacientului:<\/h3>\n<ul>\n<li>Nepurt\u0103tor<\/li>\n<li>Purt\u0103tor heterozigot<\/li>\n<li>Homozigot pentru muta\u021bie<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<h3>Identificarea purt\u0103torilor s\u0103n\u0103to\u0219i<\/h3>\n<p>Persoanele purt\u0103toare nu prezint\u0103 de obicei simptome, \u00eens\u0103 pot transmite muta\u021bia copiilor.<\/p>\n<h3>Evaluarea riscului reproductiv<\/h3>\n<h3>Dac\u0103 ambii parteneri sunt purt\u0103tori ai unei muta\u021bii CFTR, fiecare sarcin\u0103 are:<\/h3>\n<ul>\n<li>25% risc de copil afectat<\/li>\n<li>50% risc de copil purt\u0103tor<\/li>\n<li>25% \u0219ans\u0103 de copil nepurt\u0103tor<\/li>\n<\/ul>\n<h3>Diagnostic precoce<\/h3>\n<p>Permite confirmarea rapid\u0103 a unei suspiciuni clinice \u0219i instituirea precoce a m\u0103surilor terapeutice.<\/p>\n<h3>Consiliere genetic\u0103 personalizat\u0103<\/h3>\n<p>Rezultatele pot ghida deciziile reproductive \u0219i strategiile de testare familial\u0103.<\/p>\n<h3>Prob\u0103 recoltat\u0103 \/ Condi\u021bii<\/h3>\n<h3>Prob\u0103:<\/h3>\n<ul>\n<li>2 x 6 ml s\u00e2nge periferic recoltat pe EDTA<\/li>\n<\/ul>\n<h3>Condi\u021bii de recoltare:<\/h3>\n<ul>\n<li>Nu necesit\u0103 repaus alimentar.<\/li>\n<li>Nu necesit\u0103 preg\u0103tire special\u0103.<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>Pentru o evaluare complet\u0103 se recomand\u0103:<\/h3>\n<ul>\n<li>Panel complet CFTR ( https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/fibroza-chistica-detectia-celor-mai-frecvente-36-mutatii-in-gena-cftr\/ )<\/li>\n<li>Carrier Screening Extins ( https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/screening-status-de-purtator-420-gene-carrier-screening-420-genes-for-patients\/ )<\/li>\n<li>Exom Clinic ( https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/wes-bioexome\/ )<\/li>\n<li>Testul sudorii (clor \u00een transpira\u021bie)<\/li>\n<li>Screening genetic al partenerului<\/li>\n<li>Consiliere genetic\u0103<\/li>\n<li>Diagnostic prenatal molecular ( https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/arraycgh-prenatal-60k-cytoarray-prenatal-agilent-60k\/ )<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>F508del CFTR<\/li>\n<li>\u0394F508 CFTR<\/li>\n<li>Screening muta\u021bie F508del<\/li>\n<li>Test genetic pentru fibroz\u0103 chistic\u0103<\/li>\n<li>CFTR F508del Mutation Analysis<\/li>\n<li>Fibroz\u0103 chistic\u0103 \u2013 detec\u021bie muta\u021bie F508del<\/li>\n<li>Carrier Screening CFTR F508del<\/li>\n<\/ul>\n<h3>Limit\u0103ri ale testului<\/h3>\n<ul>\n<li>Analiza detecteaz\u0103 exclusiv muta\u021bia F508del.<\/li>\n<li>Un rezultat negativ nu exclude existen\u021ba altor muta\u021bii patogene \u00een gena CFTR.<\/li>\n<li>Pentru o evaluare genetic\u0103 mai complete este recomandat\u0103 analiza extins\u0103 a genei CFTR sau un Carrier Screening extins.<\/li>\n<li>Interpretarea rezultatelor trebuie realizat\u0103 \u00een context clinic \u0219i genetic adecvat.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul genetic pentru detec\u021bia muta\u021biei F508del identific\u0103 cea mai frecvent\u0103 modificare patogen\u0103 din gena <strong>CFTR<\/strong>, responsabil\u0103 de majoritatea cazurilor de fibroz\u0103 chistic\u0103 la popula\u021bia caucazian\u0103. Analiza este utilizat\u0103 pentru screeningul purt\u0103torilor, confirmarea diagnosticului \u0219i evaluarea riscului reproductiv.<\/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-26956","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":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.10 - aioseo.com -->\n\t<meta name=\"description\" content=\"Testul genetic pentru detec\u021bia muta\u021biei F508del identific\u0103 cea mai frecvent\u0103 modificare patogen\u0103 din gena CFTR, responsabil\u0103 de majoritatea cazurilor de fibroz\u0103 chistic\u0103 la popula\u021bia caucazian\u0103. 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