{"id":3154,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/cystic-fibrosis-cftr-az\/"},"modified":"2026-05-02T05:05:25","modified_gmt":"2026-05-02T05:05:25","password":"","slug":"cystic-fibrosis-cftr-az","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/az\/docs\/cystic-fibrosis-cftr-az\/","title":{"rendered":"Kistik Fibroz X\u0259st\u0259liyi v\u0259 CFTR Geni"},"content":{"rendered":"<p><!--genoks-intro-az:start--><\/p>\n<p><strong>Kistik Fibroz (CF) v\u0259 CFTR Geni.<\/strong> CF CFTR genind\u0259ki (7q31.2) patojenik variantlar s\u0259b\u0259biy\u0259 ortaya \u00e7\u0131xan otozomal resessiv \u00e7oxsistemli x\u0259st\u0259likdir, epitelial toxumalarda klorid kanal\u0131 funksiyas\u0131na t\u0259sir edir. Klinik x\u00fcsusiyy\u0259tl\u0259r: xroniki bronxit, bronxektaziya, pankreatik \u00e7at\u0131\u015fmazl\u0131q, ki\u015fil\u0259rd\u0259 CBAVD. Avropa \u0259halisind\u0259 da\u015f\u0131y\u0131c\u0131 tezliyi ~1\/30. M\u00fcasir CFTR mod\u00fclatorlar\u0131 (Trikafta\/Kaftrio) proqnozu d\u0259yi\u015fib. Diaqnostika: yenido\u011fan IRT skrininqi + t\u0259r testi + CFTR sekvenslama\/MLPA.<\/p>\n<p><!--genoks-intro-az:end--><\/p>\n<p style=\"text-align: justify\"><strong>Kistik Fibrozis Nedir?<\/strong><\/p>\n<p style=\"text-align: justify\">Kistik fibrozis (CF), kal\u0131tsal bir hastal\u0131kt\u0131r. Bu hastal\u0131k, v\u00fccudun \u00e7e\u015fitli bezlerini ve organlar\u0131n\u0131 etkileyen, \u00f6zellikle de akci\u011ferler, pankreas ve sindirim sistemi gibi organlar\u0131n\u0131 etkileyen kal\u0131tsal bir genetik bozukluktur.<\/p>\n<p style=\"text-align: justify\">Kistik Fibrozis hastal\u0131\u011f\u0131, CFTR (kistik fibrozis transmembran d\u00fczenleyici proteini) ad\u0131 verilen bir proteini kodlayan CFTR genindeki mutasyonlardan kaynaklan\u0131r. CFTR proteini, v\u00fccudun tuz ve su dengesini d\u00fczenler ve bu nedenle CFTR proteininin i\u015flevindeki bir bozukluk, bir\u00e7ok doku ve organ\u0131 etkiler.<\/p>\n<p style=\"text-align: justify\">CFTR genindeki mutasyonlar, proteinin normal i\u015flevini engelleyebilir veya azaltabilir. Bu durumda, v\u00fccuttaki s\u0131v\u0131lar\u0131n yap\u0131s\u0131nda bir de\u011fi\u015fiklik olur ve salg\u0131 bezlerinden sal\u0131nan mukus ve di\u011fer salg\u0131lar daha kal\u0131n ve yap\u0131\u015fkan hale gelir. Sonu\u00e7 olarak, bu salg\u0131lar, solunum yollar\u0131, pankreas ve di\u011fer organlar\u0131 t\u0131kayabilir, enfeksiyonlara ve di\u011fer sa\u011fl\u0131k sorunlar\u0131na neden olabilir.<\/p>\n<p style=\"text-align: justify\">Kistik fibrozis, \u00e7ocuklukta veya erken yeti\u015fkinlikte te\u015fhis edilen bir hastal\u0131kt\u0131r ve kal\u0131tsal bir hastal\u0131kt\u0131r. Bu nedenle, bir ki\u015finin bir kistik fibrozis hastas\u0131 olabilmesi i\u00e7in her iki ebeveynin de CFTR gen mutasyonu ta\u015f\u0131mas\u0131 gerekir.<\/p>\n<table>\n<tbody>\n<tr>\n<td><strong><strong>Gen:<\/strong><\/strong><\/td>\n<td>CFTR<\/td>\n<\/tr>\n<tr>\n<td><strong>Y\u00f6ntem :<\/strong><\/td>\n<td>T\u00fcm Gen Dizi Analizi<br \/>\nMLPA<\/td>\n<\/tr>\n<tr>\n<td><strong>Raporlama S\u00fcresi :<\/strong><\/td>\n<td><strong>T\u00fcm Gen Dizi Analizi:<\/strong> 4-6 Hafta<br \/>\n<strong>MLPA:<\/strong> 4 Hafta<\/td>\n<\/tr>\n<tr>\n<td><strong><strong>Prenatal\/ Postnatal:<\/strong><\/strong><\/td>\n<td>Postnatal<\/td>\n<\/tr>\n<tr>\n<td><strong>Gerekli Numune<\/strong>:<\/td>\n<td>EDTA&#8217;l\u0131 Kan (2-4 ml)<\/td>\n<\/tr>\n<tr>\n<td><strong>Saklama \/ Ta\u015f\u0131ma S\u0131cakl\u0131\u011f\u0131:<\/strong><\/td>\n<td>+ 4C\u00b0\/ + 24C\u00b0<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n<hr \/>\n<p>&nbsp;<\/p>\n<p style=\"text-align: justify\"><strong>T\u00fcm Gen Dizi Analizi Nedir?<\/strong><\/p>\n<p>T\u00fcm gen dizi analizi, bir organizman\u0131n t\u00fcm genomik DNA&#8217;s\u0131n\u0131n s\u0131ralamas\u0131n\u0131n belirlenmesi i\u015flemidir. Bu y\u00f6ntem, t\u00fcm organizman\u0131n genetik materyalindeki t\u00fcm genlerin belirlenmesini sa\u011flar. T\u00fcm gen dizi analizi, genetik bir bozuklu\u011fun nedenini ve geli\u015fimini, bireyin kal\u0131tsal hastal\u0131\u011f\u0131na veya kansere neden olan spesifik gen mutasyonlar\u0131n\u0131 belirlemek i\u00e7in de kullan\u0131l\u0131r.<\/p>\n<p style=\"text-align: justify\"><strong>MLPA Nedir?<\/strong><\/p>\n<p>MLPA, &#8220;Multiple Ligation-dependent Probe Amplification&#8221; kelimesinin k\u0131saltmas\u0131d\u0131r ve bir genetik analiz y\u00f6ntemidir. Bu y\u00f6ntem, DNA&#8217;daki belirli b\u00f6lgelerin \u00e7o\u011falt\u0131lmas\u0131n\u0131 ve ard\u0131ndan bu b\u00f6lgelerdeki genetik materyalin incelenmesini sa\u011flar.<\/p>\n<p style=\"text-align: justify\">MLPA, genetik hastal\u0131klar\u0131n te\u015fhisinde ve ta\u015f\u0131y\u0131c\u0131l\u0131k tayininde yayg\u0131n olarak kullan\u0131lan bir y\u00f6ntemdir. Bu y\u00f6ntem, genetik materyaldeki b\u00f6l\u00fcmler aras\u0131ndaki kopya say\u0131s\u0131ndaki de\u011fi\u015fiklikleri tespit etmek i\u00e7in kullan\u0131l\u0131r.<\/p>\n<p style=\"text-align: justify\">MLPA, \u00f6zellikle kromozomlar\u0131n ve genlerin yap\u0131sal de\u011fi\u015fikliklerinin, \u00f6zellikle de b\u00fcy\u00fck delesyonlar\u0131n ve duplikasyonlar\u0131n tespitinde \u00e7ok yararl\u0131d\u0131r. Bu y\u00f6ntem, nispeten h\u0131zl\u0131, hassas ve g\u00fcvenilirdir ve geni\u015f bir genetik hastal\u0131k yelpazesinde kullan\u0131labilir.<\/p>\n<p>T\u00fcm genetik testlerimiz <strong>&#8220;Hasta Onam Formu&#8221;<\/strong> ve <strong>&#8220;KVKK Formu&#8221;<\/strong>nun imzalanmas\u0131n\u0131n ard\u0131ndan \u00e7al\u0131\u015f\u0131lmaya ba\u015flan\u0131r.<\/p>\n<hr \/>\n<p><strong>Detayl\u0131 Bilgi Almak \u0130\u00e7in Bize Mesaj Atabilirsiniz.<\/strong><\/p>\n<table>\n<tbody>\n<tr>\n<td>[contact-form-7 id=&#8221;710&#8243; title=&#8221;genetik ba\u015fvuru&#8221;]<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi T.C. Sa\u011fl\u0131k Bankanl\u0131\u011f\u0131nca denetlenen ve GHDM-SM\/06.15\/01 ruhsat numaras\u0131 ile hizmet veren sa\u011fl\u0131k kurulu\u015fudur. genoks.com.tr web sayfas\u0131nda bulunan bilgiler, genetik de\u011ferlendirme ve\/veya tan\u0131-te\u015fhis ama\u00e7l\u0131 kullan\u0131lmamal\u0131d\u0131r. T\u00fcm i\u00e7erikler bilgilendirme ama\u00e7l\u0131d\u0131r.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Kistik Fibroz (CF) v\u0259 CFTR Geni. CF CFTR genind\u0259ki (7q31.2) patojenik variantlar s\u0259b\u0259biy\u0259 ortaya \u00e7\u0131xan otozomal resessiv \u00e7oxsistemli x\u0259st\u0259likdir, epitelial toxumalarda klorid kanal\u0131 funksiyas\u0131na t\u0259sir edir. Klinik x\u00fcsusiyy\u0259tl\u0259r: xroniki bronxit, bronxektaziya, pankreatik \u00e7at\u0131\u015fmazl\u0131q, ki\u015fil\u0259rd\u0259 CBAVD. Avropa \u0259halisind\u0259 da\u015f\u0131y\u0131c\u0131 tezliyi ~1\/30.<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[205],"doc_tag":[87,93,105,107,116],"class_list":["post-3154","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetik-testler-az","doc_tag-all-coding-exons-2","doc_tag-cftr","doc_tag-kalitsal","doc_tag-kistik-fibrozis","doc_tag-mutasyon"],"aioseo_notices":[],"year_month":"2026-05","word_count":614,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/az\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetik Testl\u0259r","term_url":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/"}],"doc_tag_info":[{"term_name":"All Coding Exons","term_url":"https:\/\/genoks.com.tr\/docs-tag\/all-coding-exons-2\/"},{"term_name":"CFTR","term_url":"https:\/\/genoks.com.tr\/docs-tag\/cftr\/"},{"term_name":"Kal\u0131tsal","term_url":"https:\/\/genoks.com.tr\/docs-tag\/kalitsal\/"},{"term_name":"Kistik Fibrozis","term_url":"https:\/\/genoks.com.tr\/docs-tag\/kistik-fibrozis\/"},{"term_name":"Mutasyon","term_url":"https:\/\/genoks.com.tr\/docs-tag\/mutasyon\/"}],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.5.2 - aioseo.com -->\n\t<meta name=\"description\" content=\"Kistik Fibroz (CF) v\u0259 CFTR Geni. CF CFTR genind\u0259ki (7q31.2) patojenik variantlar s\u0259b\u0259biy\u0259 ortaya \u00e7\u0131xan otozomal resessiv \u00e7oxsistemli x\u0259st\u0259likdir, epitelial toxumalarda klorid kanal\u0131 funksiyas\u0131na t\u0259sir edir. Klinik x\u00fcsusiyy\u0259tl\u0259r: xroniki bronxit, bronxektaziya, pankreatik \u00e7at\u0131\u015fmazl\u0131q, ki\u015fil\u0259rd\u0259 CBAVD. Avropa \u0259halisind\u0259 da\u015f\u0131y\u0131c\u0131 tezliyi ~1\/30. M\u00fcasir CFTR mod\u00fclatorlar\u0131 (Trikafta\/Kaftrio) proqnozu d\u0259yi\u015fib. 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CF CFTR genind\u0259ki (7q31.2) patojenik variantlar s\u0259b\u0259biy\u0259 ortaya \u00e7\u0131xan otozomal resessiv \u00e7oxsistemli x\u0259st\u0259likdir, epitelial toxumalarda klorid kanal\u0131 funksiyas\u0131na t\u0259sir edir. Klinik x\u00fcsusiyy\u0259tl\u0259r: xroniki bronxit, bronxektaziya, pankreatik \u00e7at\u0131\u015fmazl\u0131q, ki\u015fil\u0259rd\u0259 CBAVD. Avropa \u0259halisind\u0259 da\u015f\u0131y\u0131c\u0131 tezliyi ~1\/30. M\u00fcasir CFTR mod\u00fclatorlar\u0131 (Trikafta\/Kaftrio) proqnozu d\u0259yi\u015fib. 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