{"id":36144,"date":"2025-08-27T10:17:25","date_gmt":"2025-08-27T08:17:25","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/analiza-genei-gba1-boala-gaucher-secventiere-si-lr-pcr\/"},"modified":"2026-10-21T19:39:52","modified_gmt":"2026-10-21T16:39:52","slug":"analiza-genei-gba1-boala-gaucher-secventiere-si-lr-pcr","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-genei-gba1-boala-gaucher-secventiere-si-lr-pcr\/","title":{"rendered":"Analiza genei GBA1 &#8211; Boala Gaucher (secventiere si LR-PCR)"},"content":{"rendered":"<p><strong>Analiza genei GBA1<\/strong> are ca scop identificarea muta\u021biilor responsabile de Boala Gaucher, o afec\u021biune rar\u0103 de stocare lizozomal\u0103 cu transmitere autosomal recesiv\u0103. Aceast\u0103 boal\u0103 apare atunci c\u00e2nd enzima glucocerebrozidaz\u0103 nu func\u021bioneaz\u0103 corespunz\u0103tor, duc\u00e2nd la acumularea de glucocerebrozide \u00een celulele \u0219i \u021besuturile organismului. Testul utilizeaz\u0103 metode combinate de secven\u021biere ADN \u0219i Long-Range PCR (LR-PCR), pentru o acurate\u021be ridicat\u0103 \u00een identificarea muta\u021biilor.<\/p>\n<p><strong>Afec\u021biuni \u0219i simptome asociate<\/strong><\/p>\n<p>Muta\u021biile genei GBA1 pot determina diverse forme de Boal\u0103 Gaucher, clasificate \u00een trei tipuri clinice:<\/p>\n<ul>\n<li><strong>Tip 1<\/strong> (non-neuronopatic) \u2013 cea mai frecvent\u0103 form\u0103, caracterizat\u0103 prin splenomegalie, hepatomegalie, anemie, trombocitopenie, oboseal\u0103 \u0219i afectare osoas\u0103.<\/li>\n<li><strong>Tip 2<\/strong> (neuronopatic acut) \u2013 debut precoce, \u00een primii ani de via\u021b\u0103, cu afectare neurologic\u0103 sever\u0103 \u0219i evolu\u021bie rapid\u0103.<\/li>\n<li><strong>Tip 3<\/strong> (neuronopatic cronic) \u2013 debut \u00een copil\u0103rie sau adolescen\u021b\u0103, cu manifest\u0103ri neurologice progresive, al\u0103turi de cele hematologice \u0219i viscerale.<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<p>Testarea este recomandat\u0103 pentru:<\/p>\n<ul>\n<li>pacien\u021bi cu suspiciune clinic\u0103 de Boal\u0103 Gaucher, indiferent de v\u00e2rst\u0103 sau sex;<\/li>\n<li>copii sau adul\u021bi cu hepatosplenomegalie, anemie cronic\u0103, trombocitopenie sau dureri osoase inexplicabile;<\/li>\n<li>persoane cu antecedente familiale de Boal\u0103 Gaucher;<\/li>\n<li>cupluri care planific\u0103 o sarcin\u0103, pentru evaluarea riscului de transmitere genetic\u0103.<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<ul>\n<li>Secven\u021biere ADN \u2013 pentru detectarea muta\u021biilor punctiforme, inser\u021biilor \u0219i dele\u021biilor din gena GBA1.<\/li>\n<li>LR-PCR (Long-Range PCR) \u2013 permite amplificarea complet\u0103 a genei, inclusiv inclusiv a regiunilor dificil de analizat, cresc\u00e2nd sensibilitatea \u0219i specificitatea analizei.<\/li>\n<li>Rezultatele sunt validate \u0219i interpretate de medici geneticieni, fiind furnizat un raport final structurat, \u00eenso\u021bit de comentarii clinice.<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<ul>\n<li>Confirm\u0103 diagnosticul de Boal\u0103 Gaucher.<\/li>\n<li>Permite \u00eenceperea timpurie a tratamentului de substitu\u021bie enzimatic\u0103 sau a altor terapii specifice.<\/li>\n<li>Contribuie la evaluarea riscului genetic familial \u0219i consilierea membrilor familiei.<\/li>\n<li>Contribuie la clasificarea formei clinice \u0219i la monitorizarea evolu\u021biei bolii.<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<ul>\n<li>Testul detecteaz\u0103 exclusiv muta\u021biile \u00een gena GBA1; nu eviden\u021biaz\u0103 alte boli lizozomale.<\/li>\n<li>Interpretarea rezultatelor necesit\u0103 corelare cu datele clinice \u0219i paraclinice.<\/li>\n<li>Anumite muta\u021bii rare sau complexe pot necesita investiga\u021bii suplimentare.<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<ul>\n<li>Testul detecteaz\u0103 exclusiv muta\u021biile \u00een gena GBA1; nu eviden\u021biaz\u0103 alte boli lizozomale.<\/li>\n<li>Interpretarea rezultatelor necesit\u0103 corelare cu datele clinice \u0219i paraclinice.<\/li>\n<li>Anumite muta\u021bii rare sau complexe pot necesita investiga\u021bii suplimentare.<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<p>Pentru o evaluare complet\u0103 a pacientului suspect de <strong>Boala Gaucher<\/strong>, se pot recomanda:<\/p>\n<ol>\n<li><strong>Analize hematologice: <\/strong>Hemogram\u0103 complet\u0103 (anemie, trombocitopenie), Frotiu de s\u00e2nge periferic.<\/li>\n<li><strong>Teste genetice asociate \/ extinse: <\/strong>Analiza altor gene implicate \u00een boli de stocare lizozomal\u0103 (ex: GBA2, SMPD1, GALC, HEXA).<\/li>\n<li><strong>Investiga\u021bii imagistice \u0219i suplimentare, recomandate \u00een colaborare cu echipa clinic\u0103: <\/strong>Ecografie abdominal\u0103 (splin\u0103, ficat), RMN\/DEXA pentru afectarea osoas\u0103.<\/li>\n<\/ol>\n<p>Pentru interpretarea rezultatelor de genetic\u0103, te po\u021bi adresa speciali\u0219tilor no\u0219tri. Ei te pot ghida \u0219i \u00ee\u021bi pot oferi informa\u021bii suplimentare despre testele genetice din oferta noastr\u0103. Consultul genetic se poate programa at\u00e2t \u00eenainte, c\u00e2t \u0219i dup\u0103 efectuarea testului. Acesta din urm\u0103 este <strong>GRATUIT<\/strong> \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii indica\u021biilor terapeutice.<\/p>\n<p><strong>E-mail:<\/strong> consult.genetic@clinica-sante.ro<\/p>\n<p><strong>Telefon:<\/strong> 0773.975.894 ( Luni-Vineri \u00een intervalul orar 8.00-16.30 )<\/p>\n<p><strong>Call Center:<\/strong> *8787<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Muta\u021biile \u00een gena GBA1 afecteaz\u0103 metabolismul lizozomal \u0219i pot provoca Boala Gaucher, o afec\u021biune rar\u0103 ce duce la m\u0103rirea splinei \u0219i ficatului, oboseal\u0103, dureri osoase \u0219i anemie. Boala poate ap\u0103rea la copii sau adul\u021bi, indiferent de sex, iar testarea este esen\u021bial\u0103 pentru diagnostic corect \u0219i consiliere genetic\u0103 familial\u0103.<\/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-36144","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 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiza genei GBA1 boala Gaucher \u2013 secventiere si LR-PCR pentru identificarea variantelor genetice asociate afectiunii. 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