{"id":3238,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/genoks-targeted-exome-az\/"},"modified":"2026-05-02T05:14:15","modified_gmt":"2026-05-02T05:14:15","password":"","slug":"genoks-targeted-exome-az","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/az\/docs\/genoks-targeted-exome-az\/","title":{"rendered":"Genoks H\u0259d\u0259f Ekzom Sekvenslama ~4800 gen"},"content":{"rendered":"<p><!--genoks-intro-az:start--><\/p>\n<p><strong>Genoks H\u0259d\u0259f Ekzom Sekvenslama (~4800 gen).<\/strong> OMIM-x\u0259st\u0259lik \u0259laq\u0259li ~4800 geni \u0259hat\u0259 ed\u0259n klinik s\u0259viyy\u0259li h\u0259d\u0259fli ekzom paneli \u2014 gen panell\u0259rind\u0259n geni\u015f, lakin tam ekzom sekvenslamadan daha fokuslanm\u0131\u015f. X\u0259st\u0259likl\u0259 \u0259laq\u0259li kodlama b\u00f6lg\u0259l\u0259ri v\u0259 \u0259sas splice saytlar\u0131nda y\u00fcks\u0259k \u00f6rt\u00fck t\u0259min edir. Fenotip Mendel x\u0259st\u0259liyi g\u00f6st\u0259rdiyi, lakin spesifik gen paneli ayd\u0131n olmad\u0131\u011f\u0131 zaman g\u00f6st\u0259rilir. Hesabat: 4-8 h\u0259ft\u0259. CNV\/SV a\u015fkarlamas\u0131n\u0131 \u0259hat\u0259 edir. ACMG\/AMP variant t\u0259snifat\u0131.<\/p>\n<p><!--genoks-intro-az:end--><\/p>\n<p style=\"text-align: justify\"><strong>Genoks Hedef Ekzom Sekanslama Nedir ?<\/strong><\/p>\n<p style=\"text-align: justify\">Genoks Hedef Ekzom Sekanslama, yeni nesil dizileme tabanl\u0131 bir klinik ekzom sekans testidir. Klinik ekzom sekanslamada genetik hastal\u0131klarla ili\u015fkisi bilinen yakla\u015f\u0131k 4800 genin ekzon b\u00f6lgeleri dizilenerek, ki\u015fide mevcut olan hastal\u0131k yap\u0131c\u0131\u0131 genetik varyasyonlar saptan\u0131r. Ekzonlar genlerin protein kodlayan dizileridir. Genetik hastal\u0131klar \u00e7o\u011funlukla bu b\u00f6lgelerdeki mutasyonlardan dolay\u0131 ortaya \u00e7\u0131kar.<\/p>\n<p style=\"text-align: justify\">Hedef ekzom sekanslama, sadece ekzom b\u00f6lgesindeki DNA dizilerini analiz eder ve genel genom sekanslamas\u0131ndan daha h\u0131zl\u0131 ve daha ekonomiktir. Bu y\u00f6ntem, genetik hastal\u0131klar\u0131n te\u015fhisinde, nedenlerinin belirlenmesinde ve ki\u015fiye \u00f6zel tedavi planlar\u0131n\u0131n belirlenmesinde kullan\u0131labilir.<\/p>\n<p style=\"text-align: justify\">Hedef ekzom sekanslama, hedeflenen ekzom b\u00f6lgesindeki DNA dizilerini \u00e7o\u011faltmak ve ard\u0131ndan DNA dizilerinin belirlenmesi i\u00e7in y\u00fcksek verimli sekanslama teknolojileri kullan\u0131r. Bu, yaln\u0131zca protein kodlayan genlerin analiz edilmesine izin verir ve genomun di\u011fer b\u00f6lgelerindeki de\u011fi\u015fikliklerden ziyade belirli hastal\u0131klarla ili\u015fkili olan de\u011fi\u015fiklikleri belirlemeye odaklan\u0131r.<\/p>\n<p style=\"text-align: justify\">Hedef ekzom sekanslama, genetik hastal\u0131klar\u0131n te\u015fhisi i\u00e7in bir ara\u00e7t\u0131r ve belirli bir hastal\u0131k riski ta\u015f\u0131yan ki\u015filerde hastal\u0131\u011f\u0131n erken te\u015fhisi i\u00e7in kullan\u0131labilir. Ayr\u0131ca, ila\u00e7 yan etkilerinin belirlenmesi ve ki\u015fiye \u00f6zel tedavi se\u00e7eneklerinin belirlenmesinde de kullan\u0131labilir.<\/p>\n<table>\n<tbody>\n<tr>\n<td><strong>Y\u00f6ntem :<\/strong><\/td>\n<td>NGS\/<\/td>\n<\/tr>\n<tr>\n<td><strong>Raporlama S\u00fcresi :<\/strong><\/td>\n<td>8-10 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>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>Genoks H\u0259d\u0259f Ekzom Sekvenslama (~4800 gen). OMIM-x\u0259st\u0259lik \u0259laq\u0259li ~4800 geni \u0259hat\u0259 ed\u0259n klinik s\u0259viyy\u0259li h\u0259d\u0259fli ekzom paneli \u2014 gen panell\u0259rind\u0259n geni\u015f, lakin tam ekzom sekvenslamadan daha fokuslanm\u0131\u015f. X\u0259st\u0259likl\u0259 \u0259laq\u0259li kodlama b\u00f6lg\u0259l\u0259ri v\u0259 \u0259sas splice saytlar\u0131nda y\u00fcks\u0259k \u00f6rt\u00fck t\u0259min edir. Fenotip<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":[86,87,90,91,93,102,103,104,105,106,109,111,112,113,115,121,122,124,125,126,127,129,130,131,132,133,134],"class_list":["post-3238","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetik-testler-az","doc_tag-ailesel-akdeniz-atesi","doc_tag-all-coding-exons-2","doc_tag-amniyosentez","doc_tag-array","doc_tag-cftr","doc_tag-fmr1","doc_tag-frajil-x","doc_tag-frajil-x-sendromu","doc_tag-kalitsal","doc_tag-kanser","doc_tag-kromozom-analizi","doc_tag-maternal-kontaminasyon-testi","doc_tag-mikroarray-analizi","doc_tag-mikrodelesyon-analizi","doc_tag-mlpa","doc_tag-pcr","doc_tag-postnatal","doc_tag-sma","doc_tag-smn1","doc_tag-smn2","doc_tag-spinal-muskuler-atrofi","doc_tag-str-analizi","doc_tag-tek-gen-hastaligi","doc_tag-tek-nokta-mutasyon-analizitek-nokta-mutasyon-analizi","doc_tag-trombofili","doc_tag-y-kromozom","doc_tag-y-kromozom-mikrodelesyon-analizi"],"aioseo_notices":[],"year_month":"2026-05","word_count":426,"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":"Ailesel Akdeniz Ate\u015fi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/ailesel-akdeniz-atesi\/"},{"term_name":"All Coding Exons","term_url":"https:\/\/genoks.com.tr\/docs-tag\/all-coding-exons-2\/"},{"term_name":"Amniyosentez","term_url":"https:\/\/genoks.com.tr\/docs-tag\/amniyosentez\/"},{"term_name":"array","term_url":"https:\/\/genoks.com.tr\/docs-tag\/array\/"},{"term_name":"CFTR","term_url":"https:\/\/genoks.com.tr\/docs-tag\/cftr\/"},{"term_name":"FMR1","term_url":"https:\/\/genoks.com.tr\/docs-tag\/fmr1\/"},{"term_name":"Frajil X","term_url":"https:\/\/genoks.com.tr\/docs-tag\/frajil-x\/"},{"term_name":"Frajil X Sendromu","term_url":"https:\/\/genoks.com.tr\/docs-tag\/frajil-x-sendromu\/"},{"term_name":"Kal\u0131tsal","term_url":"https:\/\/genoks.com.tr\/docs-tag\/kalitsal\/"},{"term_name":"kanser","term_url":"https:\/\/genoks.com.tr\/docs-tag\/kanser\/"},{"term_name":"Kromozom Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/kromozom-analizi\/"},{"term_name":"Maternal kontaminasyon Testi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/maternal-kontaminasyon-testi\/"},{"term_name":"Mikroarray Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/mikroarray-analizi\/"},{"term_name":"Mikrodelesyon Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/mikrodelesyon-analizi\/"},{"term_name":"MLPA","term_url":"https:\/\/genoks.com.tr\/docs-tag\/mlpa\/"},{"term_name":"PCR","term_url":"https:\/\/genoks.com.tr\/docs-tag\/pcr\/"},{"term_name":"Postnatal","term_url":"https:\/\/genoks.com.tr\/docs-tag\/postnatal\/"},{"term_name":"SMA","term_url":"https:\/\/genoks.com.tr\/docs-tag\/sma\/"},{"term_name":"SMN1","term_url":"https:\/\/genoks.com.tr\/docs-tag\/smn1\/"},{"term_name":"SMN2","term_url":"https:\/\/genoks.com.tr\/docs-tag\/smn2\/"},{"term_name":"Spinal M\u00fcsk\u00fcler Atrofi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/spinal-muskuler-atrofi\/"},{"term_name":"STR Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/str-analizi\/"},{"term_name":"Tek Gen Hastal\u0131\u011f\u0131","term_url":"https:\/\/genoks.com.tr\/docs-tag\/tek-gen-hastaligi\/"},{"term_name":"Tek Nokta Mutasyon AnaliziTek Nokta Mutasyon Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/tek-nokta-mutasyon-analizitek-nokta-mutasyon-analizi\/"},{"term_name":"Trombofili","term_url":"https:\/\/genoks.com.tr\/docs-tag\/trombofili\/"},{"term_name":"Y Kromozom","term_url":"https:\/\/genoks.com.tr\/docs-tag\/y-kromozom\/"},{"term_name":"Y Kromozom Mikrodelesyon Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/y-kromozom-mikrodelesyon-analizi\/"}],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.5.2 - aioseo.com -->\n\t<meta name=\"description\" content=\"Genoks H\u0259d\u0259f Ekzom Sekvenslama (~4800 gen). 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