{"id":9080,"date":"2024-12-19T10:17:04","date_gmt":"2024-12-19T08:17:04","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9080"},"modified":"2026-04-20T18:54:44","modified_gmt":"2026-04-20T15:54:44","slug":"mutation-analysis-understanding-of-one-39-s-own-genetic-code","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/mutation-analysis-understanding-of-one-39-s-own-genetic-code\/","title":{"rendered":"Mutation analysis: understanding your own genetic code"},"content":{"rendered":"

When genes can tell you everything about health<\/strong><\/h2>\n

Vera Ivanovna, 42, went to the doctor after two of her maternal aunts were diagnosed with breast cancer. She feels well and leads a healthy lifestyle, but the thought of heredity has been troubling her. Her gynecologist advised her to get tested for genetic mutations<\/a>. Two weeks later, a test confirmed the presence of the BRCA1 mutation\u2014a game-changer. Thanks to this, she was able to receive preventive treatment and take control of her future.<\/p>\n

\u00ab"Genetic analysis is an opportunity to look into your biological future. And the earlier it is done, the better the chances of preventing the disease,",<\/strong> \u2014 explains clinical geneticist Iryna Sobol.<\/p>\n

Today, mutation analysis is not exotic. It is a tool of modern preventive medicine, available to everyone.<\/p>\n

What are mutations and why do they affect health?<\/strong><\/h2>\n

Mutations are changes in the structure of DNA that can affect protein synthesis, cell growth regulation, immune response, or drug sensitivity. Some of them are hereditary and passed down from parents, and some are acquired during life (under the influence of the environment, stress, nutrition, viruses).<\/p>\n

In what cases is a mutation analysis prescribed?<\/strong><\/h2>\n
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  • \n

    hereditary cancer in the family (breast, ovarian, colon cancer)<\/p>\n<\/li>\n

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    miscarriage, abortion<\/p>\n<\/li>\n

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    fertility problems, preparation for IVF<\/p>\n<\/li>\n

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    recurrent thrombosis, thrombophilia<\/p>\n<\/li>\n

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    suspicion of hereditary diseases<\/p>\n<\/li>\n

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    selection of drugs based on the principles of pharmacogenetics<\/p>\n<\/li>\n<\/ul>\n

    \u00ab"We often detect mutations in genes even in people without symptoms. This allows us to act proactively,",<\/strong> \u2014 notes geneticist Dmytro Strutynsky.<\/p>\n

    \"patient<\/p>\n

    Types of mutations detected in clinical practice<\/strong><\/h2>\n
    \n
    \n\n\n\n\n\n\n\n\n\n
    Gene<\/strong><\/th>\nRole<\/strong><\/th>\nWhat does mutation mean?<\/strong><\/th>\n<\/tr>\n<\/thead>\n
    BRCA1 \/ BRCA2<\/strong><\/a><\/td>\nDNA repair, tumor prevention<\/td>\nRisk of breast, ovarian, prostate cancer<\/td>\n<\/tr>\n
    MTHFR<\/strong><\/td>\nFolic acid metabolism<\/td>\nRisk of thrombosis, miscarriage, metabolic disorders<\/td>\n<\/tr>\n
    CFTR<\/strong><\/td>\nCellular ion transport<\/td>\nCystic fibrosis (with two mutations)<\/td>\n<\/tr>\n
    TP53<\/strong><\/td>\nSuppression of tumor growth<\/td>\nMultiple risks of cancer<\/td>\n<\/tr>\n
    F5 (Leiden<\/a>)<\/strong><\/td>\nBlood clotting<\/td>\nTendency to thromboembolism, especially in pregnant women<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div>\n

    Diagnostic methods<\/strong><\/h2>\n
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      PCR (polymerase chain reaction)<\/strong> \u2014 for point detection of mutations<\/p>\n<\/li>\n

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      NGS (next generation sequencing)<\/strong> \u2014 research of dozens and hundreds of genes<\/p>\n<\/li>\n

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      Microarrays or multiplex platforms<\/strong> \u2014 disease panel screening<\/p>\n<\/li>\n

    • \n

      FISH and MLPA<\/strong> \u2014 with chromosomal abnormalities<\/p>\n<\/li>\n<\/ul>\n

      The analysis is performed on a venous blood sample or a swab from the oral cavity.<\/p>\n

      What do the analysis results mean?<\/strong><\/h2>\n
        \n
      • \n

        Pathogenic mutation detected:<\/strong> high risk of developing the disease, possibility of targeted prevention or treatment<\/p>\n<\/li>\n

      • \n

        Variant of undefined value:<\/strong> additional interpretation is needed<\/p>\n<\/li>\n

      • \n

        No mutation detected:<\/strong> the risk is reduced, but not excluded - an assessment is required taking into account lifestyle, ecology, and medical history<\/p>\n<\/li>\n<\/ul>\n

        The results are always interpreted by a geneticist. He determines not only what each gene means, but also how to proceed.<\/p>\n

        Preparing for the test<\/strong><\/h2>\n
          \n
        • \n

          can be taken regardless of time of day and mealtime<\/p>\n<\/li>\n

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          no special training or diet required<\/p>\n<\/li>\n

        • \n

          it is important to provide a complete family history (oncology, miscarriages, heart disease)<\/p>\n<\/li>\n<\/ul>\n

          Mutation testing is more than just a lab test. It's a glimpse into your body's future. Knowledge is power. And in the case of genes, it's also a chance to avoid what seemed inevitable.<\/p>","protected":false},"excerpt":{"rendered":"

          When genes can tell everything about health Vira Ivanovna, 42, went to the doctor after two of her aunts<\/p>","protected":false},"author":627,"featured_media":9081,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9080","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog"],"_links":{"self":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9080","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\/627"}],"replies":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/comments?post=9080"}],"version-history":[{"count":0,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9080\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media\/9081"}],"wp:attachment":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media?parent=9080"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/categories?post=9080"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/tags?post=9080"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}