{"id":3145,"date":"2025-10-06T05:52:39","date_gmt":"2025-10-06T05:52:39","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/point-mutation-analysis-en\/"},"modified":"2026-05-02T05:05:24","modified_gmt":"2026-05-02T05:05:24","password":"","slug":"point-mutation-analysis-en","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/en\/docs\/point-mutation-analysis-en\/","title":{"rendered":"What is Point Mutation Analysis?"},"content":{"rendered":"<p><!--genoks-intro-en:start--><\/p>\n<p><strong>Point Mutation Analysis<\/strong> is a targeted molecular test that detects single-nucleotide variants in a specified gene\/region. Methods include Sanger sequencing (gold standard for known variants), targeted NGS (multi-amplicon panels), and digital droplet PCR for low-allele-frequency detection. Used in family-known mutation confirmation, monogenic disease diagnosis, and tumor hot-spot screening. Sample: 2-4 mL EDTA peripheral blood.<\/p>\n<p><!--genoks-intro-en: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>Point Mutation Analysis is a targeted molecular test that detects single-nucleotide variants in a specified gene\/region. Methods include Sanger sequencing (gold standard for known variants), targeted NGS (multi-amplicon panels), and digital droplet PCR for low-allele-frequency detection. Used in family-known mutation<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":[204],"doc_tag":[94,95,106,116,121,122,131],"class_list":["post-3145","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetic-tests","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":458,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/en\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetic Tests","term_url":"https:\/\/genoks.com.tr\/en\/docs-category\/genoks-gdhm-genetic-tests\/"}],"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=\"Point Mutation Analysis is a targeted molecular test that detects single-nucleotide variants in a specified gene\/region. 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Used in family-known mutation confirmation, monogenic disease diagnosis, and tumor hot-spot screening. Sample: 2-4 mL EDTA peripheral blood. Tek","twitter:creator":"@Genoks_GHTM","twitter:image":"https:\/\/genoks.com.tr\/wp-content\/uploads\/2025\/06\/genoks.svg"},"aioseo_meta_data":{"post_id":"3145","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 05:52:19","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 05:52:19"},"aioseo_breadcrumb":"<div class=\"aioseo-breadcrumbs\"><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/genoks.com.tr\/en\/\" 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\/en\/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\/en\/docs-category\/genoks-gdhm-genetic-tests\/\" title=\"Genoks GDHM Genetic Tests\">Genoks GDHM Genetic Tests<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">&raquo;<\/span><span class=\"aioseo-breadcrumb\">\n\tWhat is Point Mutation Analysis?\n<\/span><\/div>","aioseo_breadcrumb_json":[{"label":"Home","link":"https:\/\/genoks.com.tr\/en\/"},{"label":"Dok\u00fcmanlar","link":"https:\/\/genoks.com.tr\/en\/Genoks\/"},{"label":"Genoks GDHM Genetic Tests","link":"https:\/\/genoks.com.tr\/en\/docs-category\/genoks-gdhm-genetic-tests\/"},{"label":"What is Point Mutation Analysis?","link":"https:\/\/genoks.com.tr\/en\/docs\/point-mutation-analysis-en\/"}],"_links":{"self":[{"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/docs\/3145","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/docs"}],"about":[{"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/types\/docs"}],"author":[{"embeddable":true,"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/comments?post=3145"}],"version-history":[{"count":1,"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/docs\/3145\/revisions"}],"predecessor-version":[{"id":3453,"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/docs\/3145\/revisions\/3453"}],"wp:attachment":[{"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/media?parent=3145"}],"wp:term":[{"taxonomy":"doc_category","embeddable":true,"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/doc_category?post=3145"},{"taxonomy":"doc_tag","embeddable":true,"href":"https:\/\/genoks.com.tr\/en\/wp-json\/wp\/v2\/doc_tag?post=3145"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}