{"id":3147,"date":"2025-10-06T05:52:39","date_gmt":"2025-10-06T05:52:39","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/point-mutation-analysis-az\/"},"modified":"2026-05-02T05:05:24","modified_gmt":"2026-05-02T05:05:24","password":"","slug":"point-mutation-analysis-az","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/","title":{"rendered":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir?"},"content":{"rendered":"<p><!--genoks-intro-az:start--><\/p>\n<p><strong>T\u0259k N\u00f6qt\u0259 Mutasiya Analizi<\/strong> m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.<\/p>\n<p><!--genoks-intro-az:end--><\/p>\n<p style=\"text-align: justify\"><strong>Tek Nokta Mutasyonu Nedir?<\/strong><br \/>\nTek nokta mutasyonu DNA&#8217;n\u0131n tek bir n\u00fckleotidinde g\u00f6r\u00fclen baz de\u011fi\u015fikli\u011fi, delesyon ve duplikasyon gibi mutasyonlara denir.<\/p>\n<p style=\"text-align: justify\">\u00c7o\u011funlukla tek nokta mutasyonlar\u0131 genlerin i\u015flevini de\u011fi\u015ftirmezler ancak baz\u0131 durumlarda, bu mutasyonlar ciddi hastal\u0131klara neden olabilir. Tek nokta mutasyonlar\u0131, spontan olarak meydana gelebilir veya \u00e7evresel fakt\u00f6rler (\u00f6rne\u011fin, radyasyon) taraf\u0131ndan tetiklenebilir. Ayr\u0131ca, tek nokta mutasyonlar\u0131, kal\u0131tsal olarak da ge\u00e7ebilir. \u00d6rne\u011fin, bir ebeveynin herhangi bir mutasyona sahip bir geni ta\u015f\u0131mas\u0131 durumunda, bu mutasyon \u00e7ocuklar\u0131na aktar\u0131labilir.<\/p>\n<div id=\"attachment_1560\" style=\"width: 2570px\" class=\"wp-caption alignnone\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-1560\" class=\"size-full wp-image-1560\" src=\"https:\/\/genoks.com.tr\/wp-content\/uploads\/2023\/04\/concept-evolution-human-dna-microscope-generative-ai-scaled.jpg\" alt=\"Tek Nokta Mutasyonu\" width=\"2560\" height=\"1463\" \/><p id=\"caption-attachment-1560\" class=\"wp-caption-text\">Tek Nokta Mutasyonu<\/p><\/div>\n<p style=\"text-align: justify\"><strong>Tek nokta Mutasyon Analizi Nedir?<\/strong><br \/>\nBir bireyin DNA&#8217;s\u0131ndaki tek baz \u00e7ifti de\u011fi\u015fikliklerini tespit etmek i\u00e7in yap\u0131lan bir genetik testtir. Bu test, belirli genlerdeki mutasyonlar\u0131 tespit etmek i\u00e7in kullan\u0131l\u0131r ve kal\u0131tsal hastal\u0131klar\u0131n te\u015fhisinde ve tedavisinde \u00f6nemlidir.<\/p>\n<p style=\"text-align: justify\">Tek nokta mutasyon analizi, genellikle bir kan \u00f6rne\u011fi veya di\u011fer dokular\u0131n \u00f6rnekleri kullan\u0131larak ger\u00e7ekle\u015ftirilir. Bu \u00f6rneklerden elde edilen genetik materyal DNA, PCR (polimeraz zincir reaksiyonu) ve Sanger dizileme gibi teknikler kullan\u0131larak analiz edilir. Yeni nesil dizileme y\u00f6ntemleri ile \u00e7ok say\u0131da gen ayn\u0131 anda h\u0131zl\u0131 bir \u015fekilde inelenebilmektedir.<\/p>\n<p style=\"text-align: justify\">Bu test, bir bireyin kal\u0131tsal hastal\u0131k riskini belirlemek i\u00e7in kullan\u0131labilir. Tek nokta mutasyon analizi, mutasyonlar\u0131 tespit ederek hastal\u0131k riskini belirleyebilir ve tedaviye y\u00f6nelik stratejiler geli\u015ftirilebilir.<\/p>\n<p style=\"text-align: justify\">Tek nokta mutasyon analizi, ayr\u0131ca t\u00fcm\u00f6rlerin genetik analizi i\u00e7in de kullan\u0131l\u0131r. Bu test, kanser h\u00fccrelerindeki spesifik mutasyonlar\u0131 tespit ederek, t\u00fcm\u00f6r\u00fcn tipini belirleyebilir ve tedaviye y\u00f6nelik stratejiler geli\u015ftirilebilir.<\/p>\n<table>\n<tbody>\n<tr>\n<td><strong>Y\u00f6ntem :<\/strong><\/td>\n<td>Dizi Analizi<\/td>\n<\/tr>\n<tr>\n<td><strong>Raporlama S\u00fcresi :<\/strong><\/td>\n<td><strong>Standart Hizmet:<\/strong>6-8 Hafta<br \/>\n<strong>Express Hizmet:<\/strong> 3-4 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>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>T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi,<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":[94,95,106,116,121,122,131],"class_list":["post-3147","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetik-testler-az","doc_tag-cvs","doc_tag-dizi-analizi","doc_tag-kanser","doc_tag-mutasyon","doc_tag-pcr","doc_tag-postnatal","doc_tag-tek-nokta-mutasyon-analizitek-nokta-mutasyon-analizi"],"aioseo_notices":[],"year_month":"2026-05","word_count":486,"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":"CVS","term_url":"https:\/\/genoks.com.tr\/docs-tag\/cvs\/"},{"term_name":"Dizi Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/dizi-analizi\/"},{"term_name":"kanser","term_url":"https:\/\/genoks.com.tr\/docs-tag\/kanser\/"},{"term_name":"Mutasyon","term_url":"https:\/\/genoks.com.tr\/docs-tag\/mutasyon\/"},{"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":"Tek Nokta Mutasyon AnaliziTek Nokta Mutasyon Analizi","term_url":"https:\/\/genoks.com.tr\/docs-tag\/tek-nokta-mutasyon-analizitek-nokta-mutasyon-analizi\/"}],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.5.2 - aioseo.com -->\n\t<meta name=\"description\" content=\"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<meta name=\"author\" content=\"admin\"\/>\n\t<link rel=\"canonical\" href=\"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 4.9.5.2\" \/>\n\t\t<meta property=\"og:locale\" content=\"az_AZ\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri - Genl\u0259riniz\u0259 \u0130\u015f\u0131q Sa\u00e7\u0131r\u0131q!\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir? - Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri\" \/>\n\t\t<meta property=\"og:description\" content=\"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/\" \/>\n\t\t<meta property=\"og:image\" content=\"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg\" \/>\n\t\t<meta property=\"og:image:secure_url\" content=\"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-10-06T05:52:39+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-05-02T05:05:24+00:00\" \/>\n\t\t<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/GenoksGHTM\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:site\" content=\"@Genoks_GHTM\" \/>\n\t\t<meta name=\"twitter:title\" content=\"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir? - Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri\" \/>\n\t\t<meta name=\"twitter:description\" content=\"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.\" \/>\n\t\t<meta name=\"twitter:creator\" content=\"@Genoks_GHTM\" \/>\n\t\t<meta name=\"twitter:image\" content=\"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/#listItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/Genoks\\\/#listItem\",\"name\":\"Dok\\u00fcmanlar\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/Genoks\\\/#listItem\",\"position\":2,\"name\":\"Dok\\u00fcmanlar\",\"item\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/Genoks\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs-category\\\/genoks-gdhm-genetik-testler-az\\\/#listItem\",\"name\":\"Genoks GDHM Genetik Testl\\u0259r\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/#listItem\",\"name\":\"Home\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs-category\\\/genoks-gdhm-genetik-testler-az\\\/#listItem\",\"position\":3,\"name\":\"Genoks GDHM Genetik Testl\\u0259r\",\"item\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs-category\\\/genoks-gdhm-genetik-testler-az\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/#listItem\",\"name\":\"T\\u0259k N\\u00f6qt\\u0259 Mutasiya Analizi n\\u0259dir?\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/Genoks\\\/#listItem\",\"name\":\"Dok\\u00fcmanlar\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/#listItem\",\"position\":4,\"name\":\"T\\u0259k N\\u00f6qt\\u0259 Mutasiya Analizi n\\u0259dir?\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs-category\\\/genoks-gdhm-genetik-testler-az\\\/#listItem\",\"name\":\"Genoks GDHM Genetik Testl\\u0259r\"}}]},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/#organization\",\"name\":\"Genoks Genetika | NIPT, Da\\u015f\\u0131y\\u0131c\\u0131 Tarama, Onkogenetika v\\u0259 WES Xidm\\u0259tl\\u0259ri\",\"description\":\"Genl\\u0259riniz\\u0259 \\u0130\\u015f\\u0131q Sa\\u00e7\\u0131r\\u0131q!\",\"url\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/\",\"telephone\":\"+904448732\",\"foundingDate\":\"2014-12-01\",\"numberOfEmployees\":{\"@type\":\"QuantitativeValue\",\"value\":160},\"logo\":{\"@type\":\"ImageObject\",\"url\":\"https:\\\/\\\/genoks.com.tr\\\/wp-content\\\/uploads\\\/2025\\\/06\\\/genoks.svg\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/#organizationLogo\",\"caption\":\"RapidNIPT testi ile yap\\u0131lan NIPT taramas\\u0131 sayesinde gebelikte 90'dan fazla kromozomal hastal\\u0131k risksiz ve erken d\\u00f6nemde tespit edilir.\"},\"image\":{\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/#organizationLogo\"},\"sameAs\":[\"https:\\\/\\\/www.facebook.com\\\/GenoksGHTM\",\"https:\\\/\\\/x.com\\\/Genoks_GHTM\",\"https:\\\/\\\/www.instagram.com\\\/genoks_ghtm\\\/\",\"https:\\\/\\\/www.linkedin.com\\\/in\\\/genoks\\\/\"]},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/author\\\/admin\\\/#author\",\"url\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/author\\\/admin\\\/\",\"name\":\"admin\",\"image\":{\"@type\":\"ImageObject\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/74da4ab1a4df3c3e843b41fd6523384c13b4e218e11eb9518da4421619941871?s=96&d=mm&r=g\"}},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/#webpage\",\"url\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/\",\"name\":\"T\\u0259k N\\u00f6qt\\u0259 Mutasiya Analizi n\\u0259dir? - Genoks Genetika | NIPT, Da\\u015f\\u0131y\\u0131c\\u0131 Tarama, Onkogenetika v\\u0259 WES Xidm\\u0259tl\\u0259ri\",\"description\":\"T\\u0259k N\\u00f6qt\\u0259 Mutasiya Analizi m\\u00fc\\u0259yy\\u0259n edilmi\\u015f gen\\\/regionda t\\u0259k-n\\u00fckleotid variantlar\\u0131n\\u0131 a\\u015fkar ed\\u0259n h\\u0259d\\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\\u0259lum variantlar \\u00fc\\u00e7\\u00fcn q\\u0131z\\u0131l standart), h\\u0259d\\u0259fli NGS (\\u00e7ox-amplikon panell\\u0259r) v\\u0259 a\\u015fa\\u011f\\u0131-allel tezliyi a\\u015fkar etm\\u0259k \\u00fc\\u00e7\\u00fcn digital droplet PCR-i \\u0259hat\\u0259 edir. Ail\\u0259-m\\u0259lum mutasiya t\\u0259sdiqi, monogen x\\u0259st\\u0259lik diaqnostikas\\u0131 v\\u0259 \\u015fi\\u015f hot-spot skrininqind\\u0259 istifad\\u0259 olunur. N\\u00fcmun\\u0259: 2-4 mL EDTA periferik qan.\",\"inLanguage\":\"az\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/#website\"},\"breadcrumb\":{\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/docs\\\/point-mutation-analysis-az\\\/#breadcrumblist\"},\"author\":{\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/author\\\/admin\\\/#author\"},\"creator\":{\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/author\\\/admin\\\/#author\"},\"datePublished\":\"2025-10-06T05:52:39+00:00\",\"dateModified\":\"2026-05-02T05:05:24+00:00\"},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/#website\",\"url\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/\",\"name\":\"Genoks Genetika | NIPT, Da\\u015f\\u0131y\\u0131c\\u0131 Tarama, Onkogenetika v\\u0259 WES Xidm\\u0259tl\\u0259ri\",\"description\":\"Genl\\u0259riniz\\u0259 \\u0130\\u015f\\u0131q Sa\\u00e7\\u0131r\\u0131q!\",\"inLanguage\":\"az\",\"publisher\":{\"@id\":\"https:\\\/\\\/genoks.com.tr\\\/az\\\/#organization\"}}]}\n\t\t<\/script>\n\t\t<!-- All in One SEO Pro -->\r\n\t\t<title>T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir? - Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri<\/title>\n\n","aioseo_head_json":{"title":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir? - Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri","description":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.","canonical_url":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/","robots":"max-image-preview:large","keywords":"","webmasterTools":{"miscellaneous":""},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"BreadcrumbList","@id":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/#breadcrumblist","itemListElement":[{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/#listItem","position":1,"name":"Home","item":"https:\/\/genoks.com.tr\/az\/","nextItem":{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/Genoks\/#listItem","name":"Dok\u00fcmanlar"}},{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/Genoks\/#listItem","position":2,"name":"Dok\u00fcmanlar","item":"https:\/\/genoks.com.tr\/az\/Genoks\/","nextItem":{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/#listItem","name":"Genoks GDHM Genetik Testl\u0259r"},"previousItem":{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/#listItem","name":"Home"}},{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/#listItem","position":3,"name":"Genoks GDHM Genetik Testl\u0259r","item":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/","nextItem":{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/#listItem","name":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir?"},"previousItem":{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/Genoks\/#listItem","name":"Dok\u00fcmanlar"}},{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/#listItem","position":4,"name":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir?","previousItem":{"@type":"ListItem","@id":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/#listItem","name":"Genoks GDHM Genetik Testl\u0259r"}}]},{"@type":"Organization","@id":"https:\/\/genoks.com.tr\/az\/#organization","name":"Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri","description":"Genl\u0259riniz\u0259 \u0130\u015f\u0131q Sa\u00e7\u0131r\u0131q!","url":"https:\/\/genoks.com.tr\/az\/","telephone":"+904448732","foundingDate":"2014-12-01","numberOfEmployees":{"@type":"QuantitativeValue","value":160},"logo":{"@type":"ImageObject","url":"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg","@id":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/#organizationLogo","caption":"RapidNIPT testi ile yap\u0131lan NIPT taramas\u0131 sayesinde gebelikte 90'dan fazla kromozomal hastal\u0131k risksiz ve erken d\u00f6nemde tespit edilir."},"image":{"@id":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/#organizationLogo"},"sameAs":["https:\/\/www.facebook.com\/GenoksGHTM","https:\/\/x.com\/Genoks_GHTM","https:\/\/www.instagram.com\/genoks_ghtm\/","https:\/\/www.linkedin.com\/in\/genoks\/"]},{"@type":"Person","@id":"https:\/\/genoks.com.tr\/az\/author\/admin\/#author","url":"https:\/\/genoks.com.tr\/az\/author\/admin\/","name":"admin","image":{"@type":"ImageObject","url":"https:\/\/secure.gravatar.com\/avatar\/74da4ab1a4df3c3e843b41fd6523384c13b4e218e11eb9518da4421619941871?s=96&d=mm&r=g"}},{"@type":"WebPage","@id":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/#webpage","url":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/","name":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir? - Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri","description":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.","inLanguage":"az","isPartOf":{"@id":"https:\/\/genoks.com.tr\/az\/#website"},"breadcrumb":{"@id":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/#breadcrumblist"},"author":{"@id":"https:\/\/genoks.com.tr\/az\/author\/admin\/#author"},"creator":{"@id":"https:\/\/genoks.com.tr\/az\/author\/admin\/#author"},"datePublished":"2025-10-06T05:52:39+00:00","dateModified":"2026-05-02T05:05:24+00:00"},{"@type":"WebSite","@id":"https:\/\/genoks.com.tr\/az\/#website","url":"https:\/\/genoks.com.tr\/az\/","name":"Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri","description":"Genl\u0259riniz\u0259 \u0130\u015f\u0131q Sa\u00e7\u0131r\u0131q!","inLanguage":"az","publisher":{"@id":"https:\/\/genoks.com.tr\/az\/#organization"}}]},"og:locale":"az_AZ","og:site_name":"Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri - Genl\u0259riniz\u0259 \u0130\u015f\u0131q Sa\u00e7\u0131r\u0131q!","og:type":"article","og:title":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir? - Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri","og:description":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.","og:url":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/","og:image":"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg","og:image:secure_url":"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg","article:published_time":"2025-10-06T05:52:39+00:00","article:modified_time":"2026-05-02T05:05:24+00:00","article:publisher":"https:\/\/www.facebook.com\/GenoksGHTM","twitter:card":"summary_large_image","twitter:site":"@Genoks_GHTM","twitter:title":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir? - Genoks Genetika | NIPT, Da\u015f\u0131y\u0131c\u0131 Tarama, Onkogenetika v\u0259 WES Xidm\u0259tl\u0259ri","twitter:description":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi m\u00fc\u0259yy\u0259n edilmi\u015f gen\/regionda t\u0259k-n\u00fckleotid variantlar\u0131n\u0131 a\u015fkar ed\u0259n h\u0259d\u0259fli molekulyar testdir. Metodlar Sanger sekvenslama (m\u0259lum variantlar \u00fc\u00e7\u00fcn q\u0131z\u0131l standart), h\u0259d\u0259fli NGS (\u00e7ox-amplikon panell\u0259r) v\u0259 a\u015fa\u011f\u0131-allel tezliyi a\u015fkar etm\u0259k \u00fc\u00e7\u00fcn digital droplet PCR-i \u0259hat\u0259 edir. Ail\u0259-m\u0259lum mutasiya t\u0259sdiqi, monogen x\u0259st\u0259lik diaqnostikas\u0131 v\u0259 \u015fi\u015f hot-spot skrininqind\u0259 istifad\u0259 olunur. N\u00fcmun\u0259: 2-4 mL EDTA periferik qan.","twitter:creator":"@Genoks_GHTM","twitter:image":"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg"},"aioseo_meta_data":{"post_id":"3147","title":null,"description":null,"keywords":null,"keyphrases":null,"primary_term":null,"canonical_url":null,"og_title":null,"og_description":null,"og_object_type":"default","og_image_type":"default","og_image_url":null,"og_image_width":null,"og_image_height":null,"og_image_custom_url":null,"og_image_custom_fields":null,"og_video":null,"og_custom_url":null,"og_article_section":null,"og_article_tags":null,"twitter_use_og":false,"twitter_card":"default","twitter_image_type":"default","twitter_image_url":null,"twitter_image_custom_url":null,"twitter_image_custom_fields":null,"twitter_title":null,"twitter_description":null,"schema":{"blockGraphs":[],"customGraphs":[],"default":{"data":{"Article":[],"Course":[],"Dataset":[],"FAQPage":[],"Movie":[],"Person":[],"Product":[],"ProductReview":[],"Car":[],"Recipe":[],"Service":[],"SoftwareApplication":[],"WebPage":[]},"graphName":"","isEnabled":true},"graphs":[]},"schema_type":"default","schema_type_options":null,"pillar_content":false,"robots_default":true,"robots_noindex":false,"robots_noarchive":false,"robots_nosnippet":false,"robots_nofollow":false,"robots_noimageindex":false,"robots_noodp":false,"robots_notranslate":false,"robots_max_snippet":null,"robots_max_videopreview":null,"robots_max_imagepreview":"large","priority":null,"frequency":null,"local_seo":null,"seo_analyzer_scan_date":"2026-05-02 05:50:23","breadcrumb_settings":null,"limit_modified_date":false,"reviewed_by":null,"open_ai":null,"ai":null,"created":"2026-05-01 14:34:29","updated":"2026-05-02 05:50:23"},"aioseo_breadcrumb":"<div class=\"aioseo-breadcrumbs\"><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/genoks.com.tr\/az\/\" title=\"Home\">Home<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/genoks.com.tr\/az\/Genoks\/\" title=\"Dok\u00fcmanlar\">Dok\u00fcmanlar<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/\" title=\"Genoks GDHM Genetik Testl\u0259r\">Genoks GDHM Genetik Testl\u0259r<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\tT\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir?\n<\/span><\/div>","aioseo_breadcrumb_json":[{"label":"Home","link":"https:\/\/genoks.com.tr\/az\/"},{"label":"Dok\u00fcmanlar","link":"https:\/\/genoks.com.tr\/az\/Genoks\/"},{"label":"Genoks GDHM Genetik Testl\u0259r","link":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/"},{"label":"T\u0259k N\u00f6qt\u0259 Mutasiya Analizi n\u0259dir?","link":"https:\/\/genoks.com.tr\/az\/docs\/point-mutation-analysis-az\/"}],"_links":{"self":[{"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/docs\/3147","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/docs"}],"about":[{"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/types\/docs"}],"author":[{"embeddable":true,"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/comments?post=3147"}],"version-history":[{"count":1,"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/docs\/3147\/revisions"}],"predecessor-version":[{"id":3455,"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/docs\/3147\/revisions\/3455"}],"wp:attachment":[{"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/media?parent=3147"}],"wp:term":[{"taxonomy":"doc_category","embeddable":true,"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/doc_category?post=3147"},{"taxonomy":"doc_tag","embeddable":true,"href":"https:\/\/genoks.com.tr\/az\/wp-json\/wp\/v2\/doc_tag?post=3147"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}