{"id":1058,"date":"2023-05-30T11:39:02","date_gmt":"2023-05-30T08:39:02","guid":{"rendered":"https:\/\/genoks.com.tr\/?p=1058"},"modified":"2023-05-30T11:39:02","modified_gmt":"2023-05-30T08:39:02","slug":"genoks-testi-kac-gunde-cikar","status":"publish","type":"post","link":"https:\/\/genoks.com.tr\/en\/genoks-testi-kac-gunde-cikar\/","title":{"rendered":"Genoks testi ka\u00e7 g\u00fcnde \u00e7\u0131kar? Ne kadar s\u00fcrer?"},"content":{"rendered":"<p>Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi&#8217;nin patenli NIPT testi ( Genoks testi ka\u00e7 g\u00fcnde \u00e7\u0131kar? ) <strong>RapidNIPT 3 i\u015f g\u00fcn\u00fc<\/strong> i\u00e7inde raporlanmaktad\u0131r. Baz\u0131 durumlarda ise bu s\u00fcre 5 i\u015f g\u00fcn\u00fcne kadar uzayabilmektedir.<\/p>\n<h4>RapidNIPT Nedir?<\/h4>\n<p>RapidNIPT, gebeli\u011fin 10. haftas\u0131 itibariyle anne aday\u0131ndan al\u0131nan bir t\u00fcp kan ile \u00e7al\u0131\u015f\u0131lan, giri\u015fimsel olmamas\u0131n\u0131n yan\u0131nda anne aday\u0131n\u0131n ve bebe\u011fin sa\u011fl\u0131\u011f\u0131na hi\u00e7bir \u015fekilde zarar vermeyen 70 farkl\u0131 kromozomal hastal\u0131\u011f\u0131n tarand\u0131\u011f\u0131 yeni nesil tarama testidir. <i>RapidNIPT <a href=\"https:\/\/www.illumina.com\/\">Illumina<\/a> VeriSeq NIPT Solution v2 teknolojisini kullanmaktad\u0131r.<\/i><\/p>\n<p>Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezinin NIPT testi olan RapidNIPT, Genoks Ankara Laboratuvarlar\u0131nda \u00e7al\u0131\u015f\u0131lmas\u0131 sayesinde h\u0131zl\u0131 ve %99 do\u011fruluk pay\u0131 ile \u00e7al\u0131\u015f\u0131lmaktad\u0131r. Ayr\u0131ca RapidNIPT test parametreleri d\u0131\u015f\u0131nda sekans sonucu saptanan ve fet\u00fcse ait oldu\u011fu d\u00fc\u015f\u00fcn\u00fclen nadir say\u0131sal kromozomal anomalileri ve belirli b\u00fcy\u00fckl\u00fckteki delesyon\/duplikasyonlar\u0131 da raporlamaktad\u0131r.<\/p>\n<p>Delesyon, bir kromozom segmentinde kay\u0131p, duplikasyon ise bir kromozom segmentinde art\u0131\u015f ile karakterizedir. Delesyon\/duplikasyonun b\u00fcy\u00fckl\u00fc\u011f\u00fc, konumu ve i\u00e7erdi\u011fi genler olu\u015fabilecek sendromun klinik \u00f6zelliklerini belirler.<\/p>\n<p>Delesyon\/duplikasyon sendromlar\u0131, b\u00fcy\u00fcme\/geli\u015fme gerilikleri, bili\u015fsel yetersizlikler, davran\u0131\u015f problemleri, beslenme g\u00fc\u00e7l\u00fckleri, kas tonusu de\u011fi\u015fiklikleri, n\u00f6betler, dismor\ufb01k bulgular ve \u00e7e\u015fitli malformasyonlar gibi klinik \u00f6zelliklere neden olabilir.<\/p>\n<p>&nbsp;<\/p>\n<table>\n<tbody>\n<tr>\n<td width=\"50%\">\n<h4>\u0130nsan Kromozomlar\u0131<\/h4>\n<p align=\"justify\">Delesyon, bir kromozom segmentinde kay\u0131p, duplikasyon ise bir kromozom segmentinde art\u0131\u015f ile karakterizedir. Delesyon\/duplikasyonun b\u00fcy\u00fckl\u00fc\u011f\u00fc, konumu ve i\u00e7erdi\u011fi genler olu\u015fabilecek sendromun klinik \u00f6zelliklerini belirler. Delesyon\/duplikasyon sendromlar\u0131, b\u00fcy\u00fcme\/geli\u015fme gerilikleri, bili\u015fsel yetersizlikler, davran\u0131\u015f problemleri, beslenme g\u00fc\u00e7l\u00fckleri, kas tonusu de\u011fi\u015fiklikleri, n\u00f6betler, dismor\ufb01k bulgular ve \u00e7e\u015fitli malformasyonlar gibi klinik \u00f6zelliklere neden olabilir.<\/p>\n<\/td>\n<td><img decoding=\"async\" class=\"\" src=\"https:\/\/genoks.com.tr\/wp-content\/uploads\/2022\/04\/kromozom-listesi.jpeg\" alt=\"\u0130nsan Kromozomlar\u0131\" width=\"100%\" \/><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n<h4 style=\"text-align: center;\">RapidNIPT Hangi Hastal\u0131klar\u0131 Tarar (*\u2265 7 Mb delesyon ve duplikasyonlar i\u00e7indir.)<\/h4>\n<p>&nbsp;<\/p>\n<table>\n<tbody>\n<tr>\n<td width=\"50%\">\n<ul>\n<li style=\"text-align: left;\">11q11-q13.3 Duplikasyon Sendromu<\/li>\n<li style=\"text-align: left;\">12q14 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">14q11-q22 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">15q26 A\u015f\u0131r\u0131 B\u00fcy\u00fcme Sendromu<\/li>\n<li style=\"text-align: left;\">16p11.2-p12.2 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">16p11.2-p12.2 Duplikasyon Sendromu<\/li>\n<li style=\"text-align: left;\">17q21.31 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">17q21.31 Duplikasyon Sendromu<\/li>\n<li style=\"text-align: left;\">1p36 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">1q41-q42 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">Glass Sendromu (2q33.1)<\/li>\n<li style=\"text-align: left;\">5q21.1-q31.2 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">8p23.1 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">8p23.1 Duplikasyon Sendromu<\/li>\n<li style=\"text-align: left;\">Alfa Talasemi, Mental Retardasyon Sendromu (16p13.3)<\/li>\n<li style=\"text-align: left;\">Androjen Duyars\u0131zl\u0131k Sendromu (Xq12)<\/li>\n<li style=\"text-align: left;\">Angelman Sendromu\/Prader-Willi Sendromu (15q11-q13)<\/li>\n<li style=\"text-align: left;\">Aniridia II &amp; WAGR Sendromu (11p13)<\/li>\n<li style=\"text-align: left;\">Bannayan-Riley-Ruvalcaba Sendromu (BRRS) (10q23.31)<\/li>\n<li style=\"text-align: left;\">Branchiootorenal Displazi S. 1 \/ Melnick-Fraser S. (8q13.3)<\/li>\n<li style=\"text-align: left;\">Cat-Eye Sendromu (22q11.21)<\/li>\n<li style=\"text-align: left;\">Kromozom 10q Delesyon Sendromu (10q26)<\/li>\n<li style=\"text-align: left;\">Kromozom 10q22.3-q23.31 Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">Kromozom 18p Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">Kromozom 18q Delesyon Sendromu<\/li>\n<li style=\"text-align: left;\">Cornelia de Lange Sendromu (5p13.2)<\/li>\n<li style=\"text-align: left;\">Cowden Sendromu (10q23.31)<\/li>\n<li style=\"text-align: left;\">Cri du Chat Sendromu (5p15.2)<\/li>\n<li style=\"text-align: left;\">Dandy-Walker Sendromu (3q22-q24)<\/li>\n<li style=\"text-align: left;\">Konjenital Diyafram Hernisi (HCD \/ DIH1) (15q26.1)<\/li>\n<li style=\"text-align: left;\">DiGeorge 2 Sendromu (DGS2) &#8211; (10p14-p13)<\/li>\n<li style=\"text-align: left;\">DistalArtrogripozisTip 2B (9p13.3;11p15.5;17p13.1)<\/li>\n<\/ul>\n<\/td>\n<td>\n<ul>\n<li style=\"text-align: left;\">Duchenne Musk\u00fcler Distrofisi;<\/li>\n<li style=\"text-align: left;\">Duchenne \/ Becker Musk\u00fcler Distrofisi (Xp21.2-p21.1)<\/li>\n<li style=\"text-align: left;\">Dyggve-Melchior-Clausen Sendromu (18q21.1)<\/li>\n<li style=\"text-align: left;\">Feingold Sendromu I (2p24.3)<\/li>\n<li style=\"text-align: left;\">Holoprosensefali Tip 1 (21q22.3)<\/li>\n<li style=\"text-align: left;\">Holoprosensefali Tip 4 (18p11.31)<\/li>\n<li style=\"text-align: left;\">Holoprosensefali Tip 6 (2q37.1-q37.3)<\/li>\n<li style=\"text-align: left;\">Jacobsen Sendromu (11q24-q25)<\/li>\n<li style=\"text-align: left;\">Langer-Giedion Sendromu (8q23.3-q24.11)<\/li>\n<li style=\"text-align: left;\">L\u00f6kodistrofi S. (11q14.2-q14.3)<\/li>\n<li style=\"text-align: left;\">B\u00fcy\u00fcme Hormonu Eksikli\u011fi ile Giden<\/li>\n<li style=\"text-align: left;\">Mental Retardasyon S. (Xq26-q27)<\/li>\n<li style=\"text-align: left;\">Lineer Cilt Defektli Mikroftalmiler (Xp22.2)<\/li>\n<li style=\"text-align: left;\">Hipofiz Hipoplazisi ile Olan Mikroftalmi S. Tip 6<\/li>\n<li style=\"text-align: left;\">(14q22.2-q22.3)<\/li>\n<li style=\"text-align: left;\">Monozomi 9p Sendromu (9p22.3-p23)<\/li>\n<li style=\"text-align: left;\">Orofasiyal Dijital Sendromu (Xp22.2)<\/li>\n<li style=\"text-align: left;\">X\u2019e Ba\u011fl\u0131 Panhipopituitarizm (Xq26-q27)<\/li>\n<li style=\"text-align: left;\">Potocki-Lupski Send. (17p11.2 Duplikasyon Sendromu)<\/li>\n<li style=\"text-align: left;\">6q16.3 Delesyonu<\/li>\n<li style=\"text-align: left;\">Rieger Sendromu Tip 1 (4q25)<\/li>\n<li style=\"text-align: left;\">Saethre-Chotzen Sendromu (7p21.1)<\/li>\n<li style=\"text-align: left;\">\u0130\u015fitme Kayb\u0131 &#8211; \u0130nfertilite Sendromu (15q15.3)<\/li>\n<li style=\"text-align: left;\">Smith-Magenis Sendromu (17p11.2)<\/li>\n<li style=\"text-align: left;\">Yar\u0131k El-Ayak Malformasyon Tip 5 (2q31)<\/li>\n<li style=\"text-align: left;\">Yar\u0131k El-Ayak Malformasyon Tip 3 (10q24)<\/li>\n<li style=\"text-align: left;\">Trichorhinophalangeal Sendrom Tip 1 (8p23.3)<\/li>\n<li style=\"text-align: left;\">Van der Woude Sendromu 1 (1q32.2-q41)<\/li>\n<li style=\"text-align: left;\">Wilms T\u00fcm\u00f6r Tip 1 (11p13)<\/li>\n<li style=\"text-align: left;\">X\u2019e Ba\u011fl\u0131 Lenfoproliferatif Sendromu (Xq25)<\/li>\n<li style=\"text-align: left;\">Xp11.22-p11.23 Duplikasyon Sendromu<\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>RapidNIPT, annenin kan \u00f6rne\u011fini kullanarak bebe\u011fin genetik materyalini analiz eder ve\u00a0kromozomal anormallikler i\u00e7in de\u011ferlendirme yapar. RapidNIPT hakk\u0131nda detayl\u0131 bilgi i\u00e7in <a href=\"https:\/\/genoks.com.tr\/rapidnipt-hangi-hastaliklari-tarar\/\" target=\"_blank\" rel=\"noopener noreferrer\">RapidNIPT Nedir?<\/a> ba\u011flant\u0131s\u0131n\u0131 takip edebilirsiniz.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi&#8217;nin patenli NIPT testi ( Genoks testi ka\u00e7 g\u00fcnde \u00e7\u0131kar? ) RapidNIPT 3 i\u015f g\u00fcn\u00fc i\u00e7inde raporlanmaktad\u0131r. Baz\u0131 durumlarda ise bu s\u00fcre 5 i\u015f g\u00fcn\u00fcne kadar uzayabilmektedir. RapidNIPT Nedir? RapidNIPT, gebeli\u011fin 10. haftas\u0131 itibariyle anne aday\u0131ndan<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":2,"featured_media":1255,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"image","meta":{"footnotes":""},"categories":[145],"tags":[140,141,142,143],"class_list":["post-1058","post","type-post","status-publish","format-image","has-post-thumbnail","hentry","category-genel","tag-down-sendromu","tag-genoks-testi","tag-nipt","tag-rapidnipt","post_format-post-format-image"],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.5.2 - aioseo.com -->\n\t<meta name=\"description\" content=\"Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi&#039;nin patenli NIPT testi ( Genoks testi ka\u00e7 g\u00fcnde \u00e7\u0131kar? ) RapidNIPT 3 i\u015f g\u00fcn\u00fc i\u00e7inde raporlanmaktad\u0131r. Baz\u0131 durumlarda ise bu s\u00fcre 5 i\u015f g\u00fcn\u00fcne kadar uzayabilmektedir. 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