{"id":27745,"date":"2025-06-24T16:52:02","date_gmt":"2025-06-24T13:52:02","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-mlpa-gena-otc-deficienta-de-ornitin-transcarbamilaza\/"},"modified":"2026-06-19T18:31:14","modified_gmt":"2026-06-19T15:31:14","slug":"testare-mlpa-gena-otc-deficienta-de-ornitin-transcarbamilaza","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-mlpa-gena-otc-deficienta-de-ornitin-transcarbamilaza\/","title":{"rendered":"Testare MLPA \u2013 gena OTC (Deficienta de ornitin-transcarbamilaza)"},"content":{"rendered":"<p>Deficien\u021ba de ornitin-transcarbamilaz\u0103 (OTC) este cea mai frecvent\u0103 tulburare ereditar\u0103 a ciclului ureei \u0219i este cauzat\u0103 de modific\u0103ri ale genei <strong>OTC<\/strong>, localizat\u0103 pe cromozomul X (Xp21.1).<\/p>\n<p>De\u0219i majoritatea cazurilor sunt determinate de muta\u021bii punctiforme detectabile prin secven\u021biere, un procent semnificativ de pacien\u021bi prezint\u0103:<\/p>\n<ul>\n<li>dele\u021bii exonice,<\/li>\n<li>duplica\u021bii exonice,<\/li>\n<li>dele\u021bii par\u021biale ale genei,<\/li>\n<li>rearanjamente structurale care nu pot fi identificate prin secven\u021biere conven\u021bional\u0103.<\/li>\n<\/ul>\n<p>Analiza MLPA este special conceput\u0103 pentru detectarea modific\u0103rilor de num\u0103r de copii (<strong>CNV \u2013 Copy Number Variants<\/strong>) la nivelul genei OTC.<\/p>\n<p>Deficitul OTC determin\u0103 afectarea ciclului ureei \u0219i acumularea toxic\u0103 de amoniac \u00een organism, manifest\u0103rile put\u00e2nd varia de la forme neonatale severe p\u00e2n\u0103 la forme cu debut tardiv.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Suspiciune clinic\u0103 de deficien\u021b\u0103 de ornitin-transcarbamilaz\u0103<\/li>\n<li>Hiperamoniemie inexplicabil\u0103<\/li>\n<li>Rezultat negativ sau neconcludent la secven\u021bierea genei OTC<\/li>\n<li>Confirmarea unei dele\u021bii\/duplica\u021bii suspectate<\/li>\n<li>Screening familial dup\u0103 identificarea unei anomalii structurale OTC<\/li>\n<li>Evaluarea purt\u0103toarelor \u00een familii cu diagnostic confirmat<\/li>\n<li>Consiliere genetic\u0103 reproductiv\u0103<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Nou-n\u0103scu\u021bilor cu hiperamoniemie sever\u0103<\/li>\n<li>Copiilor \u0219i adul\u021bilor cu tulbur\u0103ri ale ciclului ureei<\/li>\n<li>Femeilor cu risc de a fi purt\u0103toare ale unei muta\u021bii OTC<\/li>\n<li>Familiilor cu diagnostic genetic confirmat de deficien\u021b\u0103 OTC<\/li>\n<li>Medicilor geneticieni, pediatri, neurologi \u0219i speciali\u0219tilor \u00een boli metabolice<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>Extrac\u021bie ADN genomic din s\u00e2nge periferic<\/li>\n<li>Analiz\u0103 prin tehnologia <strong>MLPA (Multiplex Ligation-dependent Probe Amplification)<\/strong><\/li>\n<li>Evaluarea tuturor exonilor genei OTC<\/li>\n<li>Detectarea:\n<ul>\n<li>dele\u021biilor heterozigote sau hemizigote<\/li>\n<li>duplica\u021biilor exonice<\/li>\n<li>dele\u021biilor complete sau par\u021biale ale genei<\/li>\n<li>varia\u021biilor de num\u0103r de copii (CNV)<\/li>\n<\/ul>\n<\/li>\n<li>Interpretare conform ghidurilor ACMG \u0219i standardelor interna\u021bionale de genetic\u0103 molecular\u0103<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Detecteaz\u0103 modific\u0103ri genetice care nu pot fi identificate prin NGS sau secven\u021biere Sanger<\/li>\n<li>Completeaz\u0103 evaluarea molecular\u0103 a genei OTC<\/li>\n<li>Poate cre\u0219te rata de diagnostic al deficien\u021bei OTC<\/li>\n<li>Permite identificarea purt\u0103torilor din familie<\/li>\n<li>Contribuie la managementul precoce al bolii<\/li>\n<li>Faciliteaz\u0103 consilierea genetic\u0103 \u0219i planificarea familial\u0103<\/li>\n<li>Ajut\u0103 la stabilirea unui diagnostic molecular complet<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>Investiga\u021bii genetice<\/h3>\n<ul>\n<li>Secven\u021biere NGS a genei OTC<\/li>\n<li>Testare \u021bintit\u0103 familial\u0103 pentru muta\u021bia identificat\u0103<\/li>\n<li>Panel NGS pentru tulbur\u0103rile ciclului ureei<\/li>\n<li>Exom clinic (WES) \u00een cazurile complexe<\/li>\n<\/ul>\n<h3>Investiga\u021bii metabolice<\/h3>\n<ul>\n<li>Amoniac plasmatic<\/li>\n<li>Aminoacizi plasmatici<\/li>\n<li>Acid orotic urinar<\/li>\n<li>Acizi organici urinari<\/li>\n<li>Profil metabolic extins<\/li>\n<\/ul>\n<h3>Evaluare clinic\u0103<\/h3>\n<ul>\n<li>Consult genetic<\/li>\n<li>Consult de boli metabolice<\/li>\n<li>Evaluare neurologic\u0103<\/li>\n<li>Monitorizarea func\u021biei hepatice<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<h3>S\u00e2nge total EDTA \u2013 2 x 6 ml<\/h3>\n<ul>\n<li>Nu necesit\u0103 condi\u021bii speciale de recoltare<\/li>\n<\/ul>\n<h3>Documente necesare<\/h3>\n<ul>\n<li>Recomandare medical\u0103<\/li>\n<li>Istoric clinic \u0219i metabolic<\/li>\n<li>Rezultate genetice anterioare (dac\u0103 exist\u0103)<\/li>\n<li>Raport NGS\/Sanger anterior (dac\u0103 testarea este complementar\u0103)<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>OTC MLPA analysis<\/li>\n<li>OTC deletion\/duplication testing<\/li>\n<li>Ornithine transcarbamylase MLPA<\/li>\n<li>OTC copy number analysis<\/li>\n<li>OTC CNV analysis<\/li>\n<li>OTC gene dosage analysis<\/li>\n<li>OTC rearrangement testing<\/li>\n<li>Urea cycle disorder MLPA panel<\/li>\n<li>OTC exon deletion\/duplication test<\/li>\n<li>OTC gene MLPA assay<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi ale testului<\/h3>\n<p>Testarea MLPA a genei <strong>OTC<\/strong> este destinat\u0103 identific\u0103rii <strong>dele\u021biilor \u0219i duplica\u021biilor exonice sau genice<\/strong>, modific\u0103ri care nu sunt detectate \u00een mod optim prin secven\u021biere standard. Analiza este recomandat\u0103 \u00een special la pacien\u021bii cu suspiciune clinic\u0103 puternic\u0103 de deficien\u021b\u0103 OTC \u0219i rezultat negativ la secven\u021bierea genei. Pentru o evaluare genetic\u0103 complet\u0103, se recomand\u0103 asocierea cu <strong>secven\u021bierea NGS a genei OTC<\/strong>, cele dou\u0103 metode fiind complementare.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 molecular\u0103 prin tehnica <strong>MLPA<\/strong>, utilizat\u0103 pentru detectarea <strong>dele\u021biilor \u0219i duplica\u021biilor<\/strong> la nivelul genei <strong>OTC<\/strong>, asociate cu <strong>deficien\u021ba de ornitin-transcarbamilaz\u0103 (OTC deficiency)<\/strong>. Testul completeaz\u0103 investiga\u021bia genetic\u0103 atunci c\u00e2nd secven\u021bierea NGS\/Sanger nu identific\u0103 variante patogene sau c\u00e2nd exist\u0103 suspiciunea unor rearanjamente genomice de dimensiuni mai mari.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-27745","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.10 - aioseo.com -->\n\t<meta name=\"description\" content=\"Testare MLPA gena OTC deficienta de ornitin transcarbamilaza - analiza genetica pentru identificarea deletilor si duplicatiilor in gena OTC, implicata in tulburari metabolice ale ciclului ureei.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-mlpa-gena-otc-deficienta-de-ornitin-transcarbamilaza\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 4.9.10\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - 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