{"id":8861,"date":"2024-10-21T20:17:52","date_gmt":"2024-10-21T17:17:52","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=8861"},"modified":"2026-04-20T18:55:23","modified_gmt":"2026-04-20T15:55:23","slug":"diagnosis-of-genetic-diseases-as-dna-helps-to-identify-the-disease-until-its-manifestation","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/diagnosis-of-genetic-diseases-as-dna-helps-to-identify-the-disease-until-its-manifestation\/","title":{"rendered":"Diagnosis of genetic diseases: how DNA helps recognize a disease before it manifests itself"},"content":{"rendered":"<h3 class=\"\" data-start=\"267\" data-end=\"313\"><strong>What is genetic disease diagnosis?<\/strong><\/h3>\n<p class=\"\" data-start=\"315\" data-end=\"477\">Genetic diagnostics is a set of laboratory and clinical methods that allow the detection of hereditary or congenital disorders at the level of DNA, genes, or chromosomes.<\/p>\n<p class=\"\" data-start=\"479\" data-end=\"724\">Such diseases can be present at birth or remain asymptomatic until adolescence or adulthood. Therefore, modern diagnostics are important both for patients with suspected pathology and for people planning to have a child.<\/p>\n<h3 class=\"\" data-start=\"726\" data-end=\"771\"><strong>Methods for diagnosing genetic diseases<\/strong><\/h3>\n<p class=\"\" data-start=\"773\" data-end=\"803\"><strong>1. Classical karyotyping<\/strong><\/p>\n<ul data-start=\"805\" data-end=\"1034\">\n<li class=\"\" data-start=\"805\" data-end=\"849\">\n<p class=\"\" data-start=\"807\" data-end=\"849\">Analyzes the structure and number of chromosomes<\/p>\n<\/li>\n<li class=\"\" data-start=\"850\" data-end=\"923\">\n<p class=\"\" data-start=\"852\" data-end=\"923\">Used to detect aneuploidies (e.g. Down syndrome)<\/p>\n<\/li>\n<li class=\"\" data-start=\"924\" data-end=\"959\">\n<p class=\"\" data-start=\"926\" data-end=\"959\">Samples: blood, amniotic fluid<\/p>\n<\/li>\n<li class=\"\" data-start=\"960\" data-end=\"1034\">\n<p class=\"\" data-start=\"962\" data-end=\"1034\">The method is slow (up to 14 days), but accurate for detecting large rearrangements<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"1036\" data-end=\"1084\"><strong data-start=\"1036\" data-end=\"1084\">2. FISH (fluorescence in situ hybridization)<\/strong><\/p>\n<ul data-start=\"1086\" data-end=\"1247\">\n<li class=\"\" data-start=\"1086\" data-end=\"1130\">\n<p class=\"\" data-start=\"1088\" data-end=\"1130\">Detects microscopic chromosome abnormalities<\/p>\n<\/li>\n<li class=\"\" data-start=\"1131\" data-end=\"1195\">\n<p class=\"\" data-start=\"1133\" data-end=\"1195\">Used in cases of suspected microdeletion syndromes<\/p>\n<\/li>\n<li class=\"\" data-start=\"1196\" data-end=\"1247\">\n<p class=\"\" data-start=\"1198\" data-end=\"1247\">Faster than karyotyping (1\u20132 days), high accuracy<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"1249\" data-end=\"1291\"><strong data-start=\"1249\" data-end=\"1291\">3. PCR (polymerase chain reaction)<\/strong><\/p>\n<ul data-start=\"1293\" data-end=\"1486\">\n<li class=\"\" data-start=\"1293\" data-end=\"1379\">\n<p class=\"\" data-start=\"1295\" data-end=\"1379\">Search for specific mutations in known genes (e.g., cystic fibrosis, phenylketonuria)<\/p>\n<\/li>\n<li class=\"\" data-start=\"1380\" data-end=\"1439\">\n<p class=\"\" data-start=\"1382\" data-end=\"1439\">Used for carrier status or diagnosis confirmation<\/p>\n<\/li>\n<li class=\"\" data-start=\"1440\" data-end=\"1486\">\n<p class=\"\" data-start=\"1442\" data-end=\"1486\">Result in 1\u20133 days, high specificity<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"1488\" data-end=\"1527\"><strong data-start=\"1488\" data-end=\"1527\">4. MLPA (multiplex ligase PCR)<\/strong><\/p>\n<ul data-start=\"1529\" data-end=\"1690\">\n<li class=\"\" data-start=\"1529\" data-end=\"1570\">\n<p class=\"\" data-start=\"1531\" data-end=\"1570\">Detects deletions and duplications in genes<\/p>\n<\/li>\n<li class=\"\" data-start=\"1571\" data-end=\"1667\">\n<p class=\"\" data-start=\"1573\" data-end=\"1667\">Often used in the diagnosis of muscular dystrophy, mental retardation syndromes<\/p>\n<\/li>\n<li class=\"\" data-start=\"1668\" data-end=\"1690\">\n<p class=\"\" data-start=\"1670\" data-end=\"1690\">Accuracy \u2014 over 95%<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"1692\" data-end=\"1734\"><strong data-start=\"1692\" data-end=\"1734\">5. NGS (next generation sequencing)<\/strong><\/p>\n<ul data-start=\"1736\" data-end=\"1891\">\n<li class=\"\" data-start=\"1736\" data-end=\"1782\">\n<p class=\"\" data-start=\"1738\" data-end=\"1782\">Analyzes dozens or hundreds of genes simultaneously<\/p>\n<\/li>\n<li class=\"\" data-start=\"1783\" data-end=\"1829\">\n<p class=\"\" data-start=\"1785\" data-end=\"1829\">Suitable for complex, rare cases<\/p>\n<\/li>\n<li class=\"\" data-start=\"1830\" data-end=\"1891\">\n<p class=\"\" data-start=\"1832\" data-end=\"1891\">Results in 2\u20134 weeks, requires professional interpretation<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"1893\" data-end=\"1939\"><strong data-start=\"1893\" data-end=\"1939\">6. CGH (comparative genomic hybridization)<\/strong><\/p>\n<ul data-start=\"1941\" data-end=\"2124\">\n<li class=\"\" data-start=\"1941\" data-end=\"1986\">\n<p class=\"\" data-start=\"1943\" data-end=\"1986\">Detects large and small genome rearrangements<\/p>\n<\/li>\n<li class=\"\" data-start=\"1987\" data-end=\"2066\">\n<p class=\"\" data-start=\"1989\" data-end=\"2066\">Often used for undetermined diagnoses, congenital malformations<\/p>\n<\/li>\n<li class=\"\" data-start=\"2067\" data-end=\"2124\">\n<p class=\"\" data-start=\"2069\" data-end=\"2124\">High sensitivity, works even with small samples<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"2126\" data-end=\"2156\"><strong data-start=\"2126\" data-end=\"2156\">7. Prenatal diagnosis<\/strong><\/p>\n<ul data-start=\"2158\" data-end=\"2321\">\n<li class=\"\" data-start=\"2158\" data-end=\"2217\">\n<p class=\"\" data-start=\"2160\" data-end=\"2217\">Amniocentesis, chorionic biopsy \u2014 fetal genetics research<\/p>\n<\/li>\n<li class=\"\" data-start=\"2218\" data-end=\"2281\">\n<p class=\"\" data-start=\"2220\" data-end=\"2281\">Indicated for pregnant women at high risk or over 35 years of age<\/p>\n<\/li>\n<li class=\"\" data-start=\"2282\" data-end=\"2321\">\n<p class=\"\" data-start=\"2284\" data-end=\"2321\">Performed at 10\u201320 weeks of pregnancy<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"2323\" data-end=\"2371\"><strong data-start=\"2323\" data-end=\"2371\">8. Non-invasive prenatal testing (NIPT)<\/strong><\/p>\n<ul data-start=\"2373\" data-end=\"2509\">\n<li class=\"\" data-start=\"2373\" data-end=\"2408\">\n<p class=\"\" data-start=\"2375\" data-end=\"2408\">Fetal DNA analysis from maternal blood<\/p>\n<\/li>\n<li class=\"\" data-start=\"2409\" data-end=\"2450\">\n<p class=\"\" data-start=\"2411\" data-end=\"2450\">Determines the risk of trisomies, microdeletions<\/p>\n<\/li>\n<li class=\"\" data-start=\"2451\" data-end=\"2509\">\n<p class=\"\" data-start=\"2453\" data-end=\"2509\">Safe, comfortable, recommended from the 10th week of pregnancy<\/p>\n<\/li>\n<\/ul>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-8863\" src=\"https:\/\/medilab.km.ua\/wp-content\/themes\/woodmart\/images\/lazy.svg\" data-src=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/doctor-performing-medical-research-lab-2.jpg\" alt=\"Test panel with genetic analysis markers\" width=\"1200\" height=\"800\" srcset=\"\" data-srcset=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/doctor-performing-medical-research-lab-2.jpg 1200w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/doctor-performing-medical-research-lab-2-150x100.jpg 150w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/doctor-performing-medical-research-lab-2-600x400.jpg 600w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/doctor-performing-medical-research-lab-2-300x200.jpg 300w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/doctor-performing-medical-research-lab-2-1024x683.jpg 1024w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/doctor-performing-medical-research-lab-2-768x512.jpg 768w\" sizes=\"auto, (max-width: 1200px) 100vw, 1200px\" \/><\/p>\n<h3 class=\"\" data-start=\"2511\" data-end=\"2565\"><strong>Table: Comparison of genetic diagnostic methods<\/strong><\/h3>\n<div class=\"overflow-x-auto contain-inline-size\">\n<table data-start=\"2567\" data-end=\"3606\">\n<thead data-start=\"2567\" data-end=\"2697\">\n<tr data-start=\"2567\" data-end=\"2697\">\n<th data-start=\"2567\" data-end=\"2591\">Method<\/th>\n<th data-start=\"2591\" data-end=\"2628\">What does it reveal?<\/th>\n<th data-start=\"2628\" data-end=\"2660\">Advantages<\/th>\n<th data-start=\"2660\" data-end=\"2697\">Limitation<\/th>\n<\/tr>\n<\/thead>\n<tbody data-start=\"2828\" data-end=\"3606\">\n<tr data-start=\"2828\" data-end=\"2957\">\n<td>Karyotype<\/td>\n<td>Aneuploidy, major anomalies<\/td>\n<td>Accessibility, standard<\/td>\n<td>Does not detect micro-rearrangements<\/td>\n<\/tr>\n<tr data-start=\"2958\" data-end=\"3086\">\n<td>FISH<\/td>\n<td>Microdeletions, chromosomal regions<\/td>\n<td>Speed, accuracy<\/td>\n<td>Only limited loci<\/td>\n<\/tr>\n<tr data-start=\"3087\" data-end=\"3216\">\n<td>PCR<\/td>\n<td>Point mutations<\/td>\n<td>Fast, budget-friendly<\/td>\n<td>Only for known mutations<\/td>\n<\/tr>\n<tr data-start=\"3217\" data-end=\"3346\">\n<td>MLPA<\/td>\n<td>Deletions, duplications<\/td>\n<td>High sensitivity<\/td>\n<td>Does not detect point mutations<\/td>\n<\/tr>\n<tr data-start=\"3347\" data-end=\"3477\">\n<td>NGS<\/td>\n<td>Many genes, rare mutations<\/td>\n<td>Complexity, detail<\/td>\n<td>High price, difficult interpretation<\/td>\n<\/tr>\n<tr data-start=\"3478\" data-end=\"3606\">\n<td>NIPT<\/td>\n<td>Risk of chromosomal abnormalities in the fetus<\/td>\n<td>Safe, detects early<\/td>\n<td>Screening, needs confirmation<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<h3 class=\"\" data-start=\"3608\" data-end=\"3641\"><strong>How to choose a research method<\/strong><\/h3>\n<p class=\"\" data-start=\"3643\" data-end=\"3662\">The choice depends on:<\/p>\n<ul data-start=\"3664\" data-end=\"3888\">\n<li class=\"\" data-start=\"3664\" data-end=\"3711\">\n<p class=\"\" data-start=\"3666\" data-end=\"3711\">clinical situation (symptoms, history, age)<\/p>\n<\/li>\n<li class=\"\" data-start=\"3712\" data-end=\"3765\">\n<p class=\"\" data-start=\"3714\" data-end=\"3765\">goals (diagnosis, prenatal assessment, carrier status)<\/p>\n<\/li>\n<li class=\"\" data-start=\"3766\" data-end=\"3804\">\n<p class=\"\" data-start=\"3768\" data-end=\"3804\">budget and laboratory availability<\/p>\n<\/li>\n<li class=\"\" data-start=\"3805\" data-end=\"3888\">\n<p class=\"\" data-start=\"3807\" data-end=\"3888\">previous results (e.g., for unexplained mutations \u2014 NGS recommended)<\/p>\n<\/li>\n<\/ul>\n<h3 class=\"\" data-start=\"3890\" data-end=\"3919\"><strong>Who performs the diagnosis?<\/strong><\/h3>\n<ul data-start=\"3921\" data-end=\"4075\">\n<li class=\"\" data-start=\"3921\" data-end=\"3938\">\n<p class=\"\" data-start=\"3923\" data-end=\"3938\">Geneticist<\/p>\n<\/li>\n<li class=\"\" data-start=\"3939\" data-end=\"3959\">\n<p class=\"\" data-start=\"3941\" data-end=\"3959\">Laboratory technician-geneticist<\/p>\n<\/li>\n<li class=\"\" data-start=\"3960\" data-end=\"4023\">\n<p class=\"\" data-start=\"3962\" data-end=\"4023\">Medical consultant (explains results, gives recommendations)<\/p>\n<\/li>\n<li class=\"\" data-start=\"4024\" data-end=\"4075\">\n<p class=\"\" data-start=\"4026\" data-end=\"4075\">In complex cases, a multidisciplinary team<\/p>\n<\/li>\n<\/ul>\n<p><a class=\"wpil_keyword_link\" href=\"https:\/\/medilab.km.ua\/en\/genetic-research-is-a-science-that-reveals-the-secrets-of-dna\/\"   title=\"Genetic research: the science that unlocks the secrets of DNA\" data-wpil-keyword-link=\"linked\"  data-wpil-monitor-id=\"173\">Genetic research<\/a> \u2014 it is no longer exotic, but part of modern evidence-based medicine. And the more precise the chosen method, the greater the chances of helping the patient in time.<\/p>","protected":false},"excerpt":{"rendered":"<p>What is the diagnosis of genetic diseases? Genetic diagnostics is a set of laboratory and clinical methods that allow to detect hereditary or congenital<\/p>","protected":false},"author":627,"featured_media":8862,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-8861","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\/8861","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=8861"}],"version-history":[{"count":0,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/8861\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media\/8862"}],"wp:attachment":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media?parent=8861"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/categories?post=8861"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/tags?post=8861"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}