{"id":27071,"date":"2025-06-24T15:40:36","date_gmt":"2025-06-24T12:40:36","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/gena-cftr-testare-mlpa\/"},"modified":"2026-10-21T19:43:12","modified_gmt":"2026-10-21T16:43:12","slug":"gena-cftr-testare-mlpa","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/gena-cftr-testare-mlpa\/","title":{"rendered":"Fibroza chistica (mucoviscidoza) &#8211; Gena CFTR testare MLPA"},"content":{"rendered":"<p>Testul completeaz\u0103 secven\u021bierea NGS a genei CFTR, av\u00e2nd rol esen\u021bial \u00een identificarea variantelor structurale mari care nu pot fi detectate prin metodele standard de secven\u021biere.<\/p>\n<h3>Termen de execu\u021bie*<\/h3>\n<p>45 zile lucr\u0103toare<\/p>\n<h3>Despre analiza CFTR \u2013 MLPA (dele\u021bii\/duplica\u021bii)<\/h3>\n<p>Gena <strong>CFTR (7q31.2)<\/strong> este responsabil\u0103 de codificarea canalului de clor implicat \u00een transportul ionic la nivelul epiteliilor respirator, pancreatic, intestinal \u0219i sudoral.<\/p>\n<p>Pe l\u00e2ng\u0103 muta\u021biile punctiforme, o propor\u021bie semnificativ\u0103 de cazuri de fibroz\u0103 chistic\u0103 sau fenotip CFTR-related este determinat\u0103 de:<\/p>\n<ul>\n<li>dele\u021bii ale unuia sau mai multor exoni<\/li>\n<li>duplica\u021bii ale unor regiuni ale genei CFTR<\/li>\n<li>rearanjamente genomice complexe<\/li>\n<\/ul>\n<p>Metoda <strong>MLPA<\/strong> permite evaluarea cantitativ\u0103 a fiec\u0103rui exon al genei CFTR, identific\u00e2nd varia\u021bii ale num\u0103rului de copii (CNV \u2013 Copy Number Variations).<\/p>\n<p>Aceast\u0103 tehnic\u0103 este complementar\u0103 secven\u021bierii NGS \u0219i cre\u0219te semnificativ rata de detec\u021bie a variantelor patogene.<\/p>\n<h3>Afec\u021biuni sau simptome asociate<\/h3>\n<h3>Testul este indicat \u00een:<\/h3>\n<ul>\n<li>fibroz\u0103 chistic\u0103 (mucoviscidoz\u0103)<\/li>\n<li>forme atipice de CFTR-related disorder<\/li>\n<li>bron\u0219iectazii difuze de cauz\u0103 genetic\u0103<\/li>\n<li>insuficien\u021b\u0103 pancreatic\u0103 exocrin\u0103<\/li>\n<li>infec\u021bii respiratorii recurente<\/li>\n<li>pancreatit\u0103 cronic\u0103 idiopatic\u0103<\/li>\n<li>infertilitate masculin\u0103 obstructiv\u0103 (CBAVD)<\/li>\n<li>screening genetic familial CFTR<\/li>\n<li>cazuri cu suspiciune clinic\u0103 dar NGS negativ sau incomplet<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>pacien\u021bilor cu suspiciune de fibroz\u0103 chistic\u0103<\/li>\n<li>pacien\u021bilor cu fenotip CFTR-related \u0219i testare NGS negativ\u0103<\/li>\n<li>copiilor cu infec\u021bii respiratorii recurente \u0219i malnutri\u021bie<\/li>\n<li>adul\u021bilor cu bron\u0219iectazii idiopatice<\/li>\n<li>b\u0103rba\u021bilor cu azoospermie obstructiv\u0103<\/li>\n<li>cuplurilor aflate \u00een evaluare genetic\u0103 preconcep\u021bional\u0103<\/li>\n<li>rudelor pacien\u021bilor diagnostica\u021bi cu muta\u021bii ale genei CFTR<\/li>\n<li>cazurilor cu suspiciune genetic\u0103 neconfirmat\u0103 prin secven\u021biere<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>extrac\u021bie ADN genomic din s\u00e2nge periferic EDTA<\/li>\n<li>amplificare multiplex a regiunilor \u021bint\u0103 ale genei CFTR<\/li>\n<li>ligare specific\u0103 a sondelor MLPA<\/li>\n<li>amplificare \u0219i cuantificare fragmentar\u0103<\/li>\n<li>analiz\u0103 comparativ\u0103 a intensit\u0103\u021bii semnalului pentru fiecare exon<\/li>\n<li>detectarea:\n<ul>\n<li>dele\u021biilor heterozigote sau homozigote<\/li>\n<li>duplica\u021biilor exonice sau multi-exonice<\/li>\n<\/ul>\n<\/li>\n<li>interpretare conform ghidurilor genetice interna\u021bionale<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>detecteaz\u0103 dele\u021bii\/duplica\u021bii CFTR nedetectabile prin NGS<\/li>\n<li>cre\u0219te acurate\u021bea diagnosticului de fibroz\u0103 chistic\u0103<\/li>\n<li>completeaz\u0103 analiza muta\u021biilor punctiforme ale genei CFTR<\/li>\n<li>permite identificarea cazurilor cu fenotip atipic CFTR-related<\/li>\n<li>sprijin\u0103 consilierea genetic\u0103 familial\u0103 \u0219i reproductiv\u0103<\/li>\n<li>contribuie la un diagnostic complet \u00een cazuri complexe<\/li>\n<li>optimizeaz\u0103 strategia de testare genetic\u0103 secven\u021bial\u0103<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<ul>\n<li>nu detecteaz\u0103 muta\u021bii punctiforme sau mici inser\u021bii\/dele\u021bii<\/li>\n<li>trebuie utilizat complementar cu secven\u021bierea NGS a CFTR<\/li>\n<li>pot exista varia\u021bii tehnice legate de calitatea ADN-ului<\/li>\n<li>unele rearanjamente foarte complexe pot necesita metode suplimentare<\/li>\n<li>interpretarea necesit\u0103 corelare cu fenotipul clinic \u0219i testul sudorii<\/li>\n<li>rezultatele trebuie integrate \u00eentr-un algoritm diagnostic complet CFTR<\/li>\n<\/ul>\n<h3>Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/h3>\n<h3>Prob\u0103 necesar\u0103:<\/h3>\n<ul>\n<li>s\u00e2nge integral EDTA<\/li>\n<\/ul>\n<h3>Volum recomandat:<\/h3>\n<ul>\n<li>2 \u00d7 6 ml s\u00e2nge periferic<\/li>\n<\/ul>\n<h3>Condi\u021bii de recoltare:<\/h3>\n<ul>\n<li>recoltare venoas\u0103 standard<\/li>\n<li>nu necesit\u0103 condi\u021bii speciale de preg\u0103tire<\/li>\n<li>transport conform protocolului laboratorului<\/li>\n<li>ADN stabil pentru analiz\u0103 MLPA \u00een condi\u021bii standard de transport<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li><strong>Secven\u021biere NGS a genei CFTR<\/strong> \u2013 identificarea muta\u021biilor punctiforme<\/li>\n<li><strong>Testul sudorii (clor \u00een transpira\u021bie)<\/strong> \u2013 confirmare func\u021bional\u0103<\/li>\n<li><strong>Panel NGS <\/strong>boli respiratorii genetice<\/li>\n<li><strong>Elastaz\u0103 <\/strong>pancreatic\u0103 fecal\u0103<\/li>\n<li><strong>Testare genetic\u0103 <\/strong>familial\u0103 CFTR<\/li>\n<li><strong>Carrier screening <\/strong>preconcep\u021bional pentru cupluri<\/li>\n<\/ul>\n<h3>Particularitate clinic\u0103 important\u0103<\/h3>\n<p>\u00cen fibroza chistic\u0103, o propor\u021bie relevant\u0103 de pacien\u021bi prezint\u0103 <strong>dele\u021bii sau duplica\u021bii exonice ale genei CFTR<\/strong>, care nu sunt detectabile prin secven\u021biere standard NGS. Din acest motiv, <strong>MLPA este esen\u021bial ca test complementar<\/strong>, fiind recomandat \u00een special \u00een cazurile cu suspiciune clinic\u0103 puternic\u0103 \u0219i rezultat NGS negativ sau incomplet, pentru a asigura un diagnostic genetic complet \u0219i corect.<\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Analiza genei CFTR prin tehnica MLPA (Multiplex Ligation-dependent Probe Amplification)<\/strong> este un test genetic utilizat pentru detectarea <strong>dele\u021biilor \u0219i duplica\u021biilor la nivelul genei CFTR<\/strong>, implicate \u00een apari\u021bia fibrozei chistice (mucoviscidoza) \u0219i a spectrului de boli CFTR-related.<\/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-27071","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 5.0.1 - 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