{"id":9511,"date":"2024-09-07T15:05:27","date_gmt":"2024-09-07T12:05:27","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9511"},"modified":"2026-04-20T18:55:27","modified_gmt":"2026-04-20T15:55:27","slug":"what-does-the-autosomal-recessive-test-show-what-is-dna-analysis-and-why-is-it-important-to-get-to-the-symptoms","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/what-does-the-autosomal-recessive-test-show-what-is-dna-analysis-and-why-is-it-important-to-get-to-the-symptoms\/","title":{"rendered":"Autosomal disease test: what a DNA test will show and why it is important even before symptoms appear"},"content":{"rendered":"<div class=\"kk-star-ratings kksr-auto kksr-align-left kksr-valign-top\"\n    data-payload='{&quot;align&quot;:&quot;left&quot;,&quot;id&quot;:&quot;9511&quot;,&quot;slug&quot;:&quot;default&quot;,&quot;valign&quot;:&quot;top&quot;,&quot;ignore&quot;:&quot;&quot;,&quot;reference&quot;:&quot;auto&quot;,&quot;class&quot;:&quot;&quot;,&quot;count&quot;:&quot;2272&quot;,&quot;legendonly&quot;:&quot;&quot;,&quot;readonly&quot;:&quot;&quot;,&quot;score&quot;:&quot;4.9&quot;,&quot;starsonly&quot;:&quot;&quot;,&quot;best&quot;:&quot;5&quot;,&quot;gap&quot;:&quot;5&quot;,&quot;greet&quot;:&quot;Rate this post&quot;,&quot;legend&quot;:&quot;4.9\\\/5 - (2272 votes)&quot;,&quot;size&quot;:&quot;24&quot;,&quot;title&quot;:&quot;\u0422\u0435\u0441\u0442 \u043d\u0430 \u0430\u0443\u0442\u043e\u0441\u043e\u043c\u043d\u0456 \u0437\u0430\u0445\u0432\u043e\u0440\u044e\u0432\u0430\u043d\u043d\u044f: \u0449\u043e \u043f\u043e\u043a\u0430\u0436\u0435 \u0430\u043d\u0430\u043b\u0456\u0437 \u0414\u041d\u041a \u0456 \u0447\u043e\u043c\u0443 \u0446\u0435 \u0432\u0430\u0436\u043b\u0438\u0432\u043e \u0449\u0435 \u0434\u043e \u0441\u0438\u043c\u043f\u0442\u043e\u043c\u0456\u0432&quot;,&quot;width&quot;:&quot;139.6&quot;,&quot;_legend&quot;:&quot;{score}\\\/{best} - ({count} {votes})&quot;,&quot;font_factor&quot;:&quot;1.25&quot;}'>\n            \n<div class=\"kksr-stars\">\n    \n<div class=\"kksr-stars-inactive\">\n            <div class=\"kksr-star\" data-star=\"1\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"2\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"3\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"4\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" data-star=\"5\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n    <\/div>\n    \n<div class=\"kksr-stars-active\" style=\"width: 139.6px;\">\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n            <div class=\"kksr-star\" style=\"padding-right: 5px\">\n            \n\n<div class=\"kksr-icon\" style=\"width: 24px; height: 24px;\"><\/div>\n        <\/div>\n    <\/div>\n<\/div>\n                \n\n<div class=\"kksr-legend\" style=\"font-size: 19.2px;\">\n            4.9\/5 - (2272 votes)    <\/div>\n    <\/div>\n<h2 class=\"\" data-start=\"441\" data-end=\"474\">What are autosomal diseases?<\/h2>\n<p class=\"\" data-start=\"476\" data-end=\"803\">Autosomal diseases are <strong data-start=\"504\" data-end=\"526\">hereditary disorders<\/strong>, caused by mutations in genes located on <strong data-start=\"574\" data-end=\"612\">non-sex (autosomal) chromosomes<\/strong>. There are 22 pairs of autosomes in the human genome. If one or both copies of a particular gene have an error, disorders may occur that manifest immediately after birth or even in adulthood.<\/p>\n<p class=\"\" data-start=\"805\" data-end=\"850\">There are two main types of autosomal inheritance:<\/p>\n<ul data-start=\"852\" data-end=\"1163\">\n<li class=\"\" data-start=\"852\" data-end=\"988\">\n<p class=\"\" data-start=\"854\" data-end=\"988\"><strong data-start=\"854\" data-end=\"878\">Autosomal dominant<\/strong>: one defective copy of a gene is enough to cause a disease (e.g. Huntington&#039;s chorea, Marfan syndrome)<\/p>\n<\/li>\n<li class=\"\" data-start=\"989\" data-end=\"1163\">\n<p class=\"\" data-start=\"991\" data-end=\"1163\"><strong data-start=\"991\" data-end=\"1014\">Autosomal recessive<\/strong>: a person must carry two copies of a mutated gene for the disease to manifest (e.g., cystic fibrosis, spinal muscular atrophy, phenylketonuria)<\/p>\n<\/li>\n<\/ul>\n<h2 class=\"\" data-start=\"1165\" data-end=\"1219\">Why is a test for autosomal diseases performed?<\/h2>\n<p class=\"\" data-start=\"1221\" data-end=\"1274\">This test not only allows you to confirm the diagnosis, but also:<\/p>\n<ul data-start=\"1276\" data-end=\"1509\">\n<li class=\"\" data-start=\"1276\" data-end=\"1328\">\n<p class=\"\" data-start=\"1278\" data-end=\"1328\">reveal <strong data-start=\"1286\" data-end=\"1326\">carriage in a clinically healthy person<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1329\" data-end=\"1376\">\n<p class=\"\" data-start=\"1331\" data-end=\"1376\">to evaluate <strong data-start=\"1339\" data-end=\"1374\">risk of transmitting the disease to children<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1377\" data-end=\"1454\">\n<p class=\"\" data-start=\"1379\" data-end=\"1454\">to carry out <strong data-start=\"1389\" data-end=\"1416\">prenatal diagnosis<\/strong> or <strong data-start=\"1421\" data-end=\"1452\">embryo testing during IVF<\/strong><\/p>\n<\/li>\n<li class=\"\" data-start=\"1455\" data-end=\"1509\">\n<p class=\"\" data-start=\"1457\" data-end=\"1509\">build <strong data-start=\"1468\" data-end=\"1509\">surveillance or treatment strategy<\/strong><\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"1511\" data-end=\"1712\">This test is especially important for families where there is <strong data-start=\"1554\" data-end=\"1587\">cases of rare diseases<\/strong>, for <strong data-start=\"1593\" data-end=\"1625\">young couples before pregnancy<\/strong> and for <strong data-start=\"1632\" data-end=\"1711\">patients with unexplained symptoms not explained by the classic clinic<\/strong>.<\/p>\n<h2 class=\"\" data-start=\"1714\" data-end=\"1749\">What diseases can be detected?<\/h2>\n<p class=\"\" data-start=\"1751\" data-end=\"1857\">Depending on the size of the panel, you can explore <strong data-start=\"1794\" data-end=\"1839\">from 5 to over 400 genetic diseases<\/strong>. The most famous:<\/p>\n<p class=\"\" data-start=\"1859\" data-end=\"1883\"><strong data-start=\"1859\" data-end=\"1883\">Autosomal recessive:<\/strong><\/p>\n<ul data-start=\"1885\" data-end=\"2058\">\n<li class=\"\" data-start=\"1885\" data-end=\"1908\">\n<p class=\"\" data-start=\"1887\" data-end=\"1908\"><a href=\"https:\/\/medilab.km.ua\/en\/cystic-fibrosis-is-a-genetic-disease-that-affects-the-quality-of-life\/\">Cystic fibrosis<\/a> (CFTR)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1909\" data-end=\"1945\">\n<p class=\"\" data-start=\"1911\" data-end=\"1945\">Spinal muscular atrophy (SMN1)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1946\" data-end=\"1970\">\n<p class=\"\" data-start=\"1948\" data-end=\"1970\">Phenylketonuria (PAH)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1971\" data-end=\"2001\">\n<p class=\"\" data-start=\"1973\" data-end=\"2001\">Thalassemias (HBB, HBA1\/HBA2)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2002\" data-end=\"2024\">\n<p class=\"\" data-start=\"2004\" data-end=\"2024\">Hemochromatosis (HFE)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2025\" data-end=\"2058\">\n<p class=\"\" data-start=\"2027\" data-end=\"2058\">Glycogenosis, organic acidemias<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"2060\" data-end=\"2085\"><strong data-start=\"2060\" data-end=\"2085\">Autosomal dominant:<\/strong><\/p>\n<ul data-start=\"2087\" data-end=\"2279\">\n<li class=\"\" data-start=\"2087\" data-end=\"2113\">\n<p class=\"\" data-start=\"2089\" data-end=\"2113\">Marfan syndrome (FBN1)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2114\" data-end=\"2141\">\n<p class=\"\" data-start=\"2116\" data-end=\"2141\">Huntington&#039;s disease (HTT)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2142\" data-end=\"2175\">\n<p class=\"\" data-start=\"2144\" data-end=\"2175\">Polycystic kidney disease (PKD1, PKD2)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2176\" data-end=\"2206\">\n<p class=\"\" data-start=\"2178\" data-end=\"2206\">Li-Fraumeni syndrome (TP53)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2207\" data-end=\"2279\">\n<p class=\"\" data-start=\"2209\" data-end=\"2279\">Secondary breast 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\/2<\/a> \u2013 can also be dominant)<\/p>\n<\/li>\n<\/ul>\n<p><img decoding=\"async\" class=\"alignnone size-full wp-image-9513\" src=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1.jpg\" alt=\"DNA sequencing in the laboratory\" width=\"1200\" height=\"801\" srcset=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1.jpg 1200w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1-150x100.jpg 150w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1-600x401.jpg 600w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1-300x200.jpg 300w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1-1024x684.jpg 1024w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1-768x513.jpg 768w\" sizes=\"(max-width: 1200px) 100vw, 1200px\" \/><\/p>\n<h2 class=\"\" data-start=\"2281\" data-end=\"2307\">How is the testing done?<\/h2>\n<ol data-start=\"2309\" data-end=\"2715\">\n<li class=\"\" data-start=\"2309\" data-end=\"2429\">\n<p class=\"\" data-start=\"2312\" data-end=\"2429\"><strong data-start=\"2312\" data-end=\"2333\">Biomaterial collection<\/strong> \u2013 most often venous blood is used, less often \u2013 a swab from the mucous membrane of the cheek or saliva<\/p>\n<\/li>\n<li class=\"\" data-start=\"2430\" data-end=\"2507\">\n<p class=\"\" data-start=\"2433\" data-end=\"2507\"><strong data-start=\"2433\" data-end=\"2450\">DNA isolation<\/strong> \u2013 in the laboratory, genetic material is prepared for analysis<\/p>\n<\/li>\n<li class=\"\" data-start=\"2508\" data-end=\"2602\">\n<p class=\"\" data-start=\"2511\" data-end=\"2602\"><strong data-start=\"2511\" data-end=\"2529\">Mutation analysis<\/strong> \u2013 PCR, MLPA, NGS (next generation sequencing) methods are used<\/p>\n<\/li>\n<li class=\"\" data-start=\"2603\" data-end=\"2715\">\n<p class=\"\" data-start=\"2606\" data-end=\"2715\"><strong data-start=\"2606\" data-end=\"2634\">Interpretation of the result<\/strong> \u2013 the geneticist classifies the found mutation variants according to international standards<\/p>\n<\/li>\n<\/ol>\n<h2 class=\"\" data-start=\"2717\" data-end=\"2743\">What the results mean<\/h2>\n<ul data-start=\"2745\" data-end=\"3075\">\n<li class=\"\" data-start=\"2745\" data-end=\"2825\">\n<p class=\"\" data-start=\"2747\" data-end=\"2825\"><strong data-start=\"2747\" data-end=\"2781\">Pathogenic (pathogenic mutation)<\/strong> \u2013 confirmed disease or carrier status<\/p>\n<\/li>\n<li class=\"\" data-start=\"2826\" data-end=\"2900\">\n<p class=\"\" data-start=\"2828\" data-end=\"2900\"><strong data-start=\"2828\" data-end=\"2849\">Likely pathogenic<\/strong> \u2013 mutation with high probability causes disease<\/p>\n<\/li>\n<li class=\"\" data-start=\"2901\" data-end=\"2984\">\n<p class=\"\" data-start=\"2903\" data-end=\"2984\"><strong data-start=\"2903\" data-end=\"2945\">VUS (variant of undetermined significance)<\/strong> \u2013 a mutation whose function is not yet known<\/p>\n<\/li>\n<li class=\"\" data-start=\"2985\" data-end=\"3075\">\n<p class=\"\" data-start=\"2987\" data-end=\"3075\"><strong data-start=\"2987\" data-end=\"3020\">Benign (benign variant)<\/strong> \u2013 genetic features that are not associated with pathology<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"3077\" data-end=\"3179\">Interpretation of results is always performed <strong data-start=\"3120\" data-end=\"3178\">in combination with clinical presentation and family history<\/strong>.<\/p>\n<h2 class=\"\" data-start=\"3181\" data-end=\"3228\">In what cases is the test result life-changing?<\/h2>\n<ul data-start=\"3230\" data-end=\"3631\">\n<li class=\"\" data-start=\"3230\" data-end=\"3333\">\n<p class=\"\" data-start=\"3232\" data-end=\"3333\"><strong data-start=\"3232\" data-end=\"3285\">A couple learns that they both carry the same mutation<\/strong> \u2013 have a 25% risk of giving birth to a child with the disease<\/p>\n<\/li>\n<li class=\"\" data-start=\"3334\" data-end=\"3441\">\n<p class=\"\" data-start=\"3336\" data-end=\"3441\"><strong data-start=\"3336\" data-end=\"3395\">The patient has tested positive for a late-onset disease<\/strong> \u2013 can start monitoring and prevention<\/p>\n<\/li>\n<li class=\"\" data-start=\"3442\" data-end=\"3536\">\n<p class=\"\" data-start=\"3444\" data-end=\"3536\"><strong data-start=\"3444\" data-end=\"3474\">There is a lethal mutation in the family<\/strong> \u2013 other members can be screened for carrier status<\/p>\n<\/li>\n<li class=\"\" data-start=\"3537\" data-end=\"3631\">\n<p class=\"\" data-start=\"3539\" data-end=\"3631\"><strong data-start=\"3539\" data-end=\"3586\">A mutation was detected in the fetus during pregnancy.<\/strong> \u2013 parents can make an informed decision<\/p>\n<\/li>\n<\/ul>\n<h2 class=\"\" data-start=\"3633\" data-end=\"3665\">Advantages of modern testing<\/h2>\n<ul data-start=\"3667\" data-end=\"3966\">\n<li class=\"\" data-start=\"3667\" data-end=\"3724\">\n<p class=\"\" data-start=\"3669\" data-end=\"3724\"><strong data-start=\"3669\" data-end=\"3687\">Non-invasiveness<\/strong> \u2013 a drop of blood or a smear is enough<\/p>\n<\/li>\n<li class=\"\" data-start=\"3725\" data-end=\"3783\">\n<p class=\"\" data-start=\"3727\" data-end=\"3783\"><strong data-start=\"3727\" data-end=\"3746\">High accuracy<\/strong> \u2013 the sensitivity of NGS methods reaches 99%<\/p>\n<\/li>\n<li class=\"\" data-start=\"3784\" data-end=\"3876\">\n<p class=\"\" data-start=\"3786\" data-end=\"3876\"><strong data-start=\"3786\" data-end=\"3813\">Possibility of prevention<\/strong> \u2013 knowledge of mutations allows you to take measures before symptoms begin<\/p>\n<\/li>\n<li class=\"\" data-start=\"3877\" data-end=\"3966\">\n<p class=\"\" data-start=\"3879\" data-end=\"3966\"><strong data-start=\"3879\" data-end=\"3913\">Planning for healthy offspring<\/strong> \u2013 thanks to PGT (preimplantation genetic diagnosis) in IVF<\/p>\n<\/li>\n<\/ul>\n<h2 class=\"\" data-start=\"3968\" data-end=\"4007\">Limitations and importance of consultation<\/h2>\n<ul data-start=\"4009\" data-end=\"4264\">\n<li class=\"\" data-start=\"4009\" data-end=\"4085\">\n<p class=\"\" data-start=\"4011\" data-end=\"4085\"><strong data-start=\"4011\" data-end=\"4044\">Not all options can be detected<\/strong> \u2013 especially if they are rare or new<\/p>\n<\/li>\n<li class=\"\" data-start=\"4086\" data-end=\"4190\">\n<p class=\"\" data-start=\"4088\" data-end=\"4190\"><strong data-start=\"4088\" data-end=\"4130\">Results don&#039;t always mean disease<\/strong> \u2013 many mutations require observation rather than treatment<\/p>\n<\/li>\n<li class=\"\" data-start=\"4191\" data-end=\"4264\">\n<p class=\"\" data-start=\"4193\" data-end=\"4264\"><strong data-start=\"4193\" data-end=\"4219\">Carrier status is not a diagnosis<\/strong>, but important information for family planning<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"4266\" data-end=\"4488\"><a href=\"https:\/\/medilab.km.ua\/en\/what-does-genetic-testing-show-and-why-is-it-needed\/\">Genetic tests<\/a> for autosomal diseases are not predictions of the future, but <strong data-start=\"4340\" data-end=\"4370\">tools for managing it<\/strong>. Knowledge is a chance to be prepared, protect the child, explain the symptom, avoid diagnostic errors, and not act blindly.<\/p>","protected":false},"excerpt":{"rendered":"<p>What are autosomal diseases? Autosomal diseases are hereditary disorders caused by mutations in genes located on non-sex (autosomal) chromosomes. In<\/p>","protected":false},"author":627,"featured_media":9512,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9511","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>\u0420\u043e\u0437\u0448\u0438\u0440\u0435\u043d\u0438\u0439 \u0442\u0435\u0441\u0442 \u043d\u0430 \u0430\u0443\u0442\u043e\u0441\u043e\u043c\u043d\u0456 \u0437\u0430\u0445\u0432\u043e\u0440\u044e\u0432\u0430\u043d\u043d\u044f \u2013 \u043f\u043e\u0432\u043d\u0435 \u043f\u043e\u044f\u0441\u043d\u0435\u043d\u043d\u044f<\/title>\n<meta name=\"description\" content=\"\u042f\u043a \u043f\u0440\u0430\u0446\u044e\u0454 \u0442\u0435\u0441\u0442 \u043d\u0430 \u0430\u0443\u0442\u043e\u0441\u043e\u043c\u043d\u0456 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