{"id":3256,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/genoxome-wes-sr\/"},"modified":"2026-05-02T05:14:17","modified_gmt":"2026-05-02T05:14:17","password":"","slug":"genoxome-wes-sr","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/sr\/docs\/genoxome-wes-sr\/","title":{"rendered":"\u0160ta je GenoXome kompletno sekvenciranje egzoma?"},"content":{"rendered":"

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GenoXome kompletno sekvenciranje egzoma (WES).<\/strong> Sekvencira ~22.000 gena koji kodiraju proteine (~1.5% genoma) na klini\u010dki nivou dubine (\u226580\u00d7 srednja pokrivenost). Dijagnosti\u010dki prinos 25-40% za neobja\u0161njene Mendelove poreme\u0107aje, multiple kongenitalne anomalije, intelektualnu ometenost i nedijagnostikovane sindrome kada se primenjuje analiza vo\u0111ena fenotipom. Trio analiza (proband + roditelji) pove\u0107ava prinos. Izve\u0161taj: 6-12 nedelja. Uklju\u010duje detekciju CNV. ACMG\/AMP klasifikacija varijanti + posttestno savetovanje.<\/p>\n

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GenoXome T\u00fcm Ekzom Sekanslama Nedir?<\/strong>
\nT\u00fcm ekzom sekanslama (whole exome sequencing – WES), bir organizman\u0131n t\u00fcm ekzom b\u00f6lgesini (protein kodlayan genlerin kodlama b\u00f6lgelerini) DNA dizilimini belirlemek i\u00e7in kullan\u0131lan bir genetik analiz y\u00f6ntemidir. Ekzom b\u00f6lgesi, bir organizman\u0131n genomunun yakla\u015f\u0131k %1-2’sini olu\u015fturur ancak proteinlerin yakla\u015f\u0131k %85-90’\u0131n\u0131 kodlar.<\/p>\n

WES, yeni nesil dizileme tabanl\u0131 bir i\u015flemdir. Bu test ile bilinen t\u00fcm genlerin ekzon b\u00f6lgeleri analiz edilebilir. Klasik dizileme y\u00f6ntemlerine k\u0131yasla daha h\u0131zl\u0131, daha ucuz ve daha \u00e7ok veri sa\u011flar. WES, \u00f6zellikle insan hastal\u0131klar\u0131n\u0131n molek\u00fcler te\u015fhisinde ve ara\u015ft\u0131r\u0131lmas\u0131nda kullan\u0131lan bir y\u00f6ntemdir. WES verileri, bireysel hastalarda meydana gelen mutasyonlar\u0131 ve genetik de\u011fi\u015fiklikleri tan\u0131mlamak i\u00e7in kullan\u0131labilir. Bu bilgi, hastal\u0131\u011f\u0131n tan\u0131s\u0131, tedavisi ve prognozu gibi bir\u00e7ok alanda kullan\u0131labilir.<\/p>\n\n\n\n\n\n\n\n
Y\u00f6ntem :<\/strong><\/td>\nEkzom(NGS) | STR analizi | Kromozom analizi | Exome | STR analysis | Karyotype analysis<\/td>\n<\/tr>\n
Raporlama S\u00fcresi :<\/strong><\/td>\n12 Hafta (+\/- 2 Hafta)<\/td>\n<\/tr>\n
Prenatal\/ Postnatal:<\/strong><\/strong><\/td>\nPostnatal ve Prenatal Numuneler<\/td>\n<\/tr>\n
Gerekli Numune<\/strong>:<\/td>\nEDTA’l\u0131 Kan (2-4 ml)<\/td>\n<\/tr>\n
Saklamama \/ Ta\u015f\u0131ma S\u0131cakl\u0131\u011f\u0131:<\/strong><\/td>\n+ 4C\u00b0\/ + 24C\u00b0<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n

Detayl\u0131 Bilgi Almak \u0130\u00e7in Bize Mesaj Atabilirsiniz.<\/strong><\/p>\n\n\n\n
[contact-form-7 id=“710″ title=“genetik ba\u015fvuru“]<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

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":"

GenoXome kompletno sekvenciranje egzoma (WES). Sekvencira ~22.000 gena koji kodiraju proteine (~1.5% genoma) na klini\u010dki nivou dubine (\u226580\u00d7 srednja pokrivenost). Dijagnosti\u010dki prinos 25-40% za neobja\u0161njene Mendelove poreme\u0107aje, multiple kongenitalne anomalije, intelektualnu ometenost i nedijagnostikovane sindrome kada se primenjuje analiza vo\u0111ena [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[208],"doc_tag":[],"class_list":["post-3256","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetic-tests-sr"],"aioseo_notices":[],"year_month":"2026-05","word_count":327,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/sr\/author\/admin\/"},"doc_category_info":[{"term_name":"\u0413\u0435\u043d\u0435\u0442\u0441\u043a\u0438 \u0442\u0435\u0441\u0442\u043e\u0432\u0438 Genoks GDHM","term_url":"https:\/\/genoks.com.tr\/sr\/docs-category\/genoks-gdhm-genetic-tests-sr\/"}],"doc_tag_info":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t