{"id":9100,"date":"2024-11-21T10:00:24","date_gmt":"2024-11-21T08:00:24","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9100"},"modified":"2026-04-30T08:25:52","modified_gmt":"2026-04-30T05:25:52","slug":"laboratory-genetics-diagnostics-that-starts-with-dna","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/laboratory-genetics-diagnostics-that-starts-with-dna\/","title":{"rendered":"Laboratory genetics: diagnostics that start with DNA"},"content":{"rendered":"

What is laboratory genetics?<\/strong><\/h2>\n

Laboratory genetics is a branch of medical diagnostics that studies a person's hereditary information at the molecular level. It includes the study of DNA, RNA, chromosomes, and genes to identify genetic diseases, predispositions to diseases, metabolic features, drug reactions, and other biological features of the body.<\/p>\n

Such studies have become an important tool in modern personalized medicine, especially in the fields of oncology, reproductive medicine, cardiology, endocrinology, and neurology.<\/p>\n

When shown genetic testing<\/a><\/strong><\/h2>\n
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    infertility or failed IVF attempts<\/p>\n<\/li>\n

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    hereditary cancer in the family<\/p>\n<\/li>\n

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    suspicion of hereditary diseases in the child<\/p>\n<\/li>\n

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    reaction to medication or side effects<\/p>\n<\/li>\n

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    pregnancy planning<\/p>\n<\/li>\n

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    developmental delay in children<\/p>\n<\/li>\n

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    predisposition to metabolic disorders (diabetes, obesity)<\/p>\n<\/li>\n<\/ul>\n

    Main areas of laboratory genetics<\/strong><\/h2>\n

    1. Medical-genetic diagnostics<\/strong><\/h3>\n

    The study is aimed at identifying hereditary diseases. For example:<\/p>\n

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      Elevated phenylalanine levels detected in newborn baby \u2014 confirmed phenylketonuria<\/strong><\/p>\n<\/li>\n

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      The patient has a mutation in the gene CFTR<\/strong> \u2014 diagnosed cystic fibrosis<\/strong><\/p>\n<\/li>\n

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      A child with a speech disorder has a deletion of 22q11.2, which corresponds to DiGeorge syndrome<\/strong><\/p>\n<\/li>\n<\/ul>\n

      2. Oncogenetics<\/strong><\/h3>\n

      Genetic testing can help assess your susceptibility to developing certain forms of cancer. Examples:<\/p>\n

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        A woman has a mutation in her gene BRCA1<\/strong> \u2014 increased risk of breast cancer<\/p>\n<\/li>\n

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        A patient with colon cancer has been confirmed APC mutation<\/strong> \u2014 Lynch syndrome<\/strong><\/p>\n<\/li>\n

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        Mutation BRAF<\/strong> determines resistance to targeted therapy in melanoma<\/p>\n<\/li>\n<\/ul>\n

        3. Reproductive genetics<\/strong><\/h3>\n

        Used in IVF programs, pregnancy planning, prenatal diagnosis. For example:<\/p>\n

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          The couple is passing by. carrier screening<\/strong> \u2014 the risk of having a child with spinal muscular atrophy<\/strong><\/p>\n<\/li>\n

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          NIPT revealed in the fetus trisomy 21<\/strong> \u2014 Down syndrome<\/p>\n<\/li>\n

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          Program for selecting embryos with a normal karyotype for transfer<\/p>\n<\/li>\n<\/ul>\n

          4. Pharmacogenetics<\/strong><\/h3>\n

          This area studies the individual body's response to drugs. Examples:<\/p>\n

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            The patient has a CYP2C19 mutation - ineffectiveness of standard dosing clopidogrel<\/strong><\/p>\n<\/li>\n

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            In the treatment of depression, poor tolerability was found SSRI<\/strong> due to variations in the SLC6A4 gene<\/p>\n<\/li>\n

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            TPMT genetic analysis helped avoid toxicity azathioprine<\/strong><\/p>\n<\/li>\n<\/ul>\n

            5. Nutrition and sports genetics<\/strong><\/h3>\n

            Genetic analysis allows you to adapt your lifestyle. For example:<\/p>\n

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              The patient has been diagnosed with intolerance lactose<\/strong> (LCT gene)<\/p>\n<\/li>\n

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              Decreased gene activity MTHFR<\/strong> indicates poor digestion folic acid<\/strong><\/p>\n<\/li>\n

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              The ACTN3 gene showed a preference for power sports<\/strong><\/p>\n<\/li>\n<\/ul>\n

              \"doctor<\/p>\n

              Comparison of laboratory genetics methods<\/strong><\/h2>\n
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              \n\n\n\n\n\n\n\n\n\n
              Method<\/strong><\/th>\nWhat does it reveal?<\/strong><\/th>\nApplication<\/strong><\/th>\n<\/tr>\n<\/thead>\n
              PCR<\/td>\nIndividual mutations<\/td>\nTargeted mutations (CFTR, F5 Leiden)<\/td>\n<\/tr>\n
              NGS (next generation sequencing)<\/td>\nGene or genome sequence<\/td>\nPanels of tens to hundreds of genes<\/td>\n<\/tr>\n
              MLPA<\/td>\nDeletions and duplications<\/td>\nSMA, deletion syndromes, oncogenes<\/td>\n<\/tr>\n
              FISH<\/td>\nChromosomal abnormalities<\/td>\nOncogenetics, prenatal diagnostics<\/td>\n<\/tr>\n
              CGH arrays<\/td>\nChromosomal rearrangements<\/td>\nReproductive genetics, developmental delay<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div>\n

              Advantages of laboratory genetics<\/strong><\/h2>\n
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                Detection diseases at the preclinical level<\/strong><\/p>\n<\/li>\n

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                Construction personalized treatment plan<\/strong><\/p>\n<\/li>\n

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                Possibility prevent complications<\/strong><\/p>\n<\/li>\n

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                Safe selection of medications and dosage<\/p>\n<\/li>\n

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                A reliable base for pregnancy planning<\/strong><\/p>\n<\/li>\n

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                Reducing costs of ineffective treatment<\/p>\n<\/li>\n<\/ul>\n

                Laboratory genetics opens up a new level of understanding of health. It is not just technology \u2014 it is an approach to medicine, where each analysis takes into account the individuality of the organism. And the earlier a step is taken towards diagnostics at the DNA level \u2014 the greater the chances for a quality life.<\/p>","protected":false},"excerpt":{"rendered":"

                What is laboratory genetics Laboratory genetics is a branch of medical diagnostics that studies a person's hereditary information at the molecular level. It<\/p>","protected":false},"author":97,"featured_media":9101,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9100","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\/9100","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=9100"}],"version-history":[{"count":0,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9100\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media\/9101"}],"wp:attachment":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media?parent=9100"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/categories?post=9100"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/tags?post=9100"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}