{"id":9231,"date":"2024-10-04T15:59:24","date_gmt":"2024-10-04T12:59:24","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9231"},"modified":"2026-06-30T17:21:50","modified_gmt":"2026-06-30T17:21:50","slug":"what-is-the-test-for-gene-mutations-and-what-is-the-result","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/what-is-the-test-for-gene-mutations-and-what-is-the-result\/","title":{"rendered":"Gene mutation test: when, why and what gives the result"},"content":{"rendered":"<h2 class=\"\" data-start=\"553\" data-end=\"623\"><strong data-start=\"556\" data-end=\"623\">Genetic analysis: a tool for prevention and precise treatment<\/strong><\/h2>\n<p class=\"\" data-start=\"625\" data-end=\"911\">Knowing your genes is not a fashion statement, but a real step towards a sensible attitude towards health. Modern genetics makes it possible to identify risks even before the first symptoms appear. And this helps <strong data-start=\"813\" data-end=\"840\">gene mutation test<\/strong> \u2014 analysis that can change your life strategy, treatment or prevention.<\/p>\n<p class=\"\" data-start=\"913\" data-end=\"1195\">As he explains <a class=\"\" href=\"https:\/\/www.mayoclinic.org\/tests-procedures\/genetic-testing\" target=\"_new\" rel=\"noopener\" data-start=\"924\" data-end=\"998\">Mayo Clinic<\/a>, \u00ab<a href=\"https:\/\/medilab.km.ua\/en\/what-does-genetic-testing-show-and-why-is-it-needed\/\">genetic testing<\/a> is not a sentence, but it provides knowledge that helps you make informed decisions.\u00bb This is especially true for people with a family history of oncology, thrombosis, or congenital diseases.<\/p>\n<h2 class=\"\" data-start=\"1197\" data-end=\"1240\"><strong data-start=\"1200\" data-end=\"1240\">What does a gene mutation test examine?<\/strong><\/h2>\n<p class=\"\" data-start=\"1242\" data-end=\"1309\">The test detects <strong data-start=\"1255\" data-end=\"1286\">disorders in the structure of genes<\/strong>, which can cause:<\/p>\n<ul data-start=\"1311\" data-end=\"1532\">\n<li class=\"\" data-start=\"1311\" data-end=\"1360\">\n<p class=\"\" data-start=\"1313\" data-end=\"1360\">hereditary forms of cancer (<a href=\"https:\/\/medilab.km.ua\/en\/analysis\/diagnosis-of-tumor-markers\/oncogenetics-brca1-brca2-identification-of-genetic-polymorphisms-associated-with-the-risk-of-breast-cancer\/\">BRCA1, BRCA2<\/a>, APC, TP53)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1361\" data-end=\"1406\">\n<p class=\"\" data-start=\"1363\" data-end=\"1406\">blood clotting disorder (F5 Leiden, F2)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1407\" data-end=\"1474\">\n<p class=\"\" data-start=\"1409\" data-end=\"1474\">predisposition to cardiovascular, endocrine, mental disorders<\/p>\n<\/li>\n<li class=\"\" data-start=\"1475\" data-end=\"1532\">\n<p class=\"\" data-start=\"1477\" data-end=\"1532\">carrying genetic diseases that can be passed on to children<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"1534\" data-end=\"1630\">The material for analysis is blood, saliva, or buccal swab. The results are interpreted by a medical geneticist.<\/p>\n<p data-start=\"1534\" data-end=\"1630\"><img decoding=\"async\" class=\"alignnone size-full wp-image-9233\" src=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/sekv.jpg\" alt=\"automated DNA sequencing system in the laboratory\" width=\"1200\" height=\"798\" srcset=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/sekv.jpg 1200w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/sekv-150x100.jpg 150w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/sekv-600x399.jpg 600w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/sekv-300x200.jpg 300w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/sekv-1024x681.jpg 1024w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/sekv-768x511.jpg 768w\" sizes=\"(max-width: 1200px) 100vw, 1200px\" \/><\/p>\n<h2 class=\"\" data-start=\"1632\" data-end=\"1680\"><strong data-start=\"1635\" data-end=\"1680\">When to take the test: key situations<\/strong><\/h2>\n<p class=\"\" data-start=\"1682\" data-end=\"1965\"><strong data-start=\"1682\" data-end=\"1725\">1. If there were cases of oncology in the family<\/strong><br data-start=\"1725\" data-end=\"1728\" \/>Especially breast, ovarian, prostate or colorectal cancer. According to the WHO, \u00abdiagnosis of BRCA mutations allows for a 50\u201387% reduction in the risk of death through timely intervention.\u00bb.<\/p>\n<p class=\"\" data-start=\"1967\" data-end=\"2130\"><strong data-start=\"1967\" data-end=\"2002\">2. Before planning a pregnancy<\/strong><br data-start=\"2002\" data-end=\"2005\" \/>You can check whether you are a carrier of genes that cause serious hereditary diseases - phenylketonuria, cystic fibrosis, thalassemia.<\/p>\n<p class=\"\" data-start=\"2132\" data-end=\"2455\"><strong data-start=\"2132\" data-end=\"2168\">3. In case of established diagnosis<\/strong><br data-start=\"2168\" data-end=\"2171\" \/>Genetic testing helps to choose <strong data-start=\"2212\" data-end=\"2232\">targeted therapy<\/strong>, understand the aggressiveness of the disease, determine the prognosis. According to <a target=\"_new\" rel=\"noopener\" data-start=\"2295\" data-end=\"2372\">FDA<\/a>, &quot;most targeted cancer drugs are only approved if a mutation is present.&quot;.<\/p>\n<p class=\"\" data-start=\"2457\" data-end=\"2636\"><strong data-start=\"2457\" data-end=\"2513\">4. To create a personalized health strategy<\/strong><br data-start=\"2513\" data-end=\"2516\" \/>In particular, this may be a plan of examinations (MRI, <a href=\"https:\/\/medilab.km.ua\/en\/what-are-oncomarkers-and-when-should-they-be-tested\/\">tumor markers<\/a>), nutritional correction or selection of medications based on pharmacogenetics.<\/p>\n<h2 class=\"\" data-start=\"2638\" data-end=\"2696\"><strong data-start=\"2641\" data-end=\"2696\">What the test gives: examples of results and real stories<\/strong><\/h2>\n<ol data-start=\"2698\" data-end=\"3200\">\n<li class=\"\" data-start=\"2698\" data-end=\"2854\">\n<p class=\"\" data-start=\"2701\" data-end=\"2854\"><strong data-start=\"2701\" data-end=\"2749\">A woman with two cases of breast cancer in her family<\/strong> learns about the BRCA1 mutation. She chooses a prophylactic mastectomy, reducing her risk of the disease from 87% to 5%.<\/p>\n<\/li>\n<li class=\"\" data-start=\"2856\" data-end=\"3053\">\n<p class=\"\" data-start=\"2859\" data-end=\"3053\"><strong data-start=\"2859\" data-end=\"2889\">Young couple before conception<\/strong> undergoes a reproductive mutation panel and learns that they both carry the cystic fibrosis gene. Thanks to this <a href=\"https:\/\/medilab.km.ua\/en\/laboratory-genetics-diagnostics-that-starts-with-dna\/\">you can use IVF methods with genetic screening<\/a>.<\/p>\n<\/li>\n<li class=\"\" data-start=\"3055\" data-end=\"3200\">\n<p class=\"\" data-start=\"3058\" data-end=\"3200\"><strong data-start=\"3058\" data-end=\"3092\">A 32-year-old man with thrombosis<\/strong> learns about the F5 Leiden mutation. This changes the approach to treatment and helps prevent recurrent complications.<\/p>\n<\/li>\n<\/ol>\n<h2 class=\"\" data-start=\"3202\" data-end=\"3259\"><strong data-start=\"3205\" data-end=\"3259\">Expert quotes: what international organizations say<\/strong><\/h2>\n<blockquote data-start=\"3261\" data-end=\"3660\">\n<p class=\"\" data-start=\"3263\" data-end=\"3660\">\u201cGenetic testing is a transition from reactive to preventive medicine,\u201d \u2014 <a target=\"_new\" rel=\"noopener\" data-start=\"3342\" data-end=\"3384\">FDA<\/a><br data-start=\"3384\" data-end=\"3387\" \/>\u201cIdentifying hereditary mutations allows us to avoid deaths that were inevitable just 10 years ago,\u201d \u2014 <a class=\"\" href=\"https:\/\/www.who.int\/health-topics\/genomics\" target=\"_new\" rel=\"noopener\" data-start=\"3486\" data-end=\"3536\">WHO<\/a><br data-start=\"3536\" data-end=\"3539\" \/>\u201cWe help people not to fear genetics, but to use it as a protection,\u201d \u2014 <a class=\"\" href=\"https:\/\/www.mayoclinic.org\" target=\"_new\" rel=\"noopener\" data-start=\"3619\" data-end=\"3660\">Mayo Clinic<\/a><\/p>\n<\/blockquote>\n<h2 class=\"\" data-start=\"3662\" data-end=\"3688\"><strong data-start=\"3665\" data-end=\"3688\">What else is important to know?<\/strong><\/h2>\n<ul data-start=\"3690\" data-end=\"3918\">\n<li class=\"\" data-start=\"3690\" data-end=\"3752\">\n<p class=\"\" data-start=\"3692\" data-end=\"3752\">A mutation doesn&#039;t always mean disease. It&#039;s a risk, not a sentence.<\/p>\n<\/li>\n<li class=\"\" data-start=\"3753\" data-end=\"3822\">\n<p class=\"\" data-start=\"3755\" data-end=\"3822\">Testing should be carried out <strong data-start=\"3782\" data-end=\"3819\">only after consulting a doctor<\/strong>.<\/p>\n<\/li>\n<li class=\"\" data-start=\"3823\" data-end=\"3918\">\n<p class=\"\" data-start=\"3825\" data-end=\"3918\">After the result is important <strong data-start=\"3850\" data-end=\"3876\">genetic counseling<\/strong>, to correctly interpret the information.<\/p>\n<\/li>\n<\/ul>\n<p>Mutation testing is not only a tool for detecting diseases, but also the basis for a responsible attitude towards one&#039;s own health and the health of future generations. In today&#039;s world, where medicine is moving towards personalized solutions, genetics is becoming not a complex science, but an understandable and effective tool.<\/p>","protected":false},"excerpt":{"rendered":"<p>Genetic analysis: a tool for prevention and precise treatment. Knowing about your genes is not a tribute to fashion, but a real step towards<\/p>","protected":false},"author":97,"featured_media":9232,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9231","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zahvoryuvannya-ta-symptomy"],"_links":{"self":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9231","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/users\/97"}],"replies":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/comments?post=9231"}],"version-history":[{"count":0,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9231\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media\/9232"}],"wp:attachment":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media?parent=9231"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/categories?post=9231"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/tags?post=9231"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}