{"id":3252,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/genoxome-wes-az\/"},"modified":"2026-05-02T05:14:16","modified_gmt":"2026-05-02T05:14:16","password":"","slug":"genoxome-wes-az","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/az\/docs\/genoxome-wes-az\/","title":{"rendered":"GenoXome B\u00fct\u00fcn Ekzom Sekvenslama n\u0259dir?"},"content":{"rendered":"

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GenoXome B\u00fct\u00fcn Ekzom Sekvenslama (WES).<\/strong> Klinik s\u0259viyy\u0259d\u0259 d\u0259rinlikd\u0259 (\u226580\u00d7 orta \u00f6rt\u00fck) ~22,000 z\u00fclal-kodlu geni (~1.5% genom) sekvenslay\u0131r. Fenotip-istiqam\u0259tli analiz t\u0259tbiq edildikd\u0259 a\u00e7\u0131qlanmam\u0131\u015f Mendel poz\u011funluqlar\u0131nda, \u00e7oxlu do\u011fu\u015fsal anomaliyalarda, intellektual \u00e7at\u0131\u015fmazl\u0131qda v\u0259 diaqnozlanmam\u0131\u015f sindromlarda diaqnostik m\u0259hsuldarl\u0131q 25-40%. \u00dc\u00e7l\u00fc analiz (x\u0259st\u0259 + valideynl\u0259r) m\u0259hsuldarl\u0131\u011f\u0131 art\u0131r\u0131r. Hesabat: 6-12 h\u0259ft\u0259. CNV a\u015fkarlamas\u0131n\u0131 \u0259hat\u0259 edir. ACMG\/AMP variant t\u0259snifat\u0131 + test sonras\u0131 m\u0259sl\u0259h\u0259t.<\/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
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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 B\u00fct\u00fcn Ekzom Sekvenslama (WES). Klinik s\u0259viyy\u0259d\u0259 d\u0259rinlikd\u0259 (\u226580\u00d7 orta \u00f6rt\u00fck) ~22,000 z\u00fclal-kodlu geni (~1.5% genom) sekvenslay\u0131r. Fenotip-istiqam\u0259tli analiz t\u0259tbiq edildikd\u0259 a\u00e7\u0131qlanmam\u0131\u015f Mendel poz\u011funluqlar\u0131nda, \u00e7oxlu do\u011fu\u015fsal anomaliyalarda, intellektual \u00e7at\u0131\u015fmazl\u0131qda v\u0259 diaqnozlanmam\u0131\u015f sindromlarda diaqnostik m\u0259hsuldarl\u0131q 25-40%. \u00dc\u00e7l\u00fc analiz (x\u0259st\u0259 + valideynl\u0259r) [\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":[],"class_list":["post-3252","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetik-testler-az"],"aioseo_notices":[],"year_month":"2026-05","word_count":346,"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":[],"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