{"id":68476,"date":"2025-02-19T11:03:48","date_gmt":"2025-02-19T09:03:48","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&#038;p=68476"},"modified":"2025-07-01T07:56:12","modified_gmt":"2025-07-01T04:56:12","slug":"profil-genetic-pentru-afectiuni-aortice","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-pentru-afectiuni-aortice\/","title":{"rendered":"Profil genetic pentru afectiuni aortice"},"content":{"rendered":"<div class=\"info-tabs\">\n<div class=\"info-content content-informatii-generale\">\n<h2><strong>Informatii generale despre profilul genetic pentru afectiuni aortice:<\/strong><\/h2>\n<p>Anomaliile aortice primare (aortopatii) sunt boli congenitale, condi\u021bionate genetic caracterizate prin defecte ce afecteaz\u0103: proteinele matricei extracelulare, calea de semnalizare TGF-beta \u0219i proteinele structurale ale musculaturii netede din vase. \u00cen timp ce primele dou\u0103 duc la modific\u0103ri \u00een \u021besutul conjunctiv al adventicei vaselor, cea de-a treia produce pierderea func\u021biei contractile. Ambele tipuri de afect\u0103ri sunt asociate cu cre\u0219terea riscului de anevrism sau ruptur\u0103 de anevrism \u00een sistemul arterial. Complica\u021biile care amenin\u021b\u0103 via\u021b\u0103 pacientului variaz\u0103 de la rupturi \u00een aorta ascendent\u0103 p\u00e2n\u0103 la rupturi \u00een arter\u0103 mezenteric\u0103 (de exemplu, \u00een timpul sarcinii). Bolile aortei sunt un exemplu elocvent de heterogenitate genetic\u0103 \u0219i fenotipic\u0103 \u0219i sunt caracterizate prin pleiotropie.<\/p>\n<p>Au fost raportate \u0219i caracterizate din punct de vedere genetic numeroase afec\u021biuni u\u0219or identificabile clinic ce pot fi incluse \u00een diagnosticul diferen\u021bial. Oferim un panel comprehensiv de 37 de gene, care acoper\u0103 mai multe dintre afec\u021biunile aortice. \u00cen plus, oferim paneluri \u021bintite pentru sindroamele Ehlers-Danlos \u0219i Marfan \u0219i pentru cele Marfan-like.<\/p>\n<p><strong>37 gene vizate:\u00a0<\/strong>ACTA2, BGN, CBS, COL1A1, COL3A1, COL4A5, COL5A1, COL5A2, EFEMP2, ELN EMILIN1, FBLN5, FBN1, FBN2, FLNA, FOXE3, GATA5, LOX, LTBP3, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, ROBO4, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2<\/p>\n<p><strong>SINDROAME INCLUSE<\/strong><\/p>\n<ul>\n<li>Bicuspidia valvei aortice<\/li>\n<li>Cutis laxa<\/li>\n<li>Sindrom Ehlers-Danlos<\/li>\n<li>Sindrom Loeys-Dietz (tipurile 1-6)<\/li>\n<li>Sindrom Marfan<\/li>\n<li>Anevrism de aort\u0103 toracic\u0103 \u015fi disec\u0163ii de aort\u0103<\/li>\n<\/ul>\n<p><strong>SIMPTOME POSIBILE:<\/strong><\/p>\n<ul>\n<li>Durere la nivelul mandibulei, gatului, toracelui sau spatelui<\/li>\n<li>Edeme ale bratelor, gatului sau capului<\/li>\n<li>Dificult\u0103\u0163i la degluti\u0163ie<\/li>\n<li>Dispnee<\/li>\n<li>Parestezii<\/li>\n<li>Statur\u0103 \u00eenalt\u0103<\/li>\n<li>Degete lungi \u015fi sub\u0163iri (arahnodactilie)<\/li>\n<li>Tegumente palide, fragile, echimotice<\/li>\n<li>Hipermobilitate articular\u0103<\/li>\n<li>Torace excavat sau proeminent<\/li>\n<\/ul>\n<p><strong>POPULA\u0162IA \u0162INT\u0102: <\/strong><\/p>\n<p>Pacien\u0163i cu <strong>istoric familial <\/strong>de stop cardiac inexplicabil, moarte cardiac\u0103 sau evenimente aortice subite<\/p>\n<p>Pacien\u0163i cu diagnostic clinic de defecte cardiace, care <strong>au nevoie de un diagnostic <\/strong><strong>diferen\u0163ial<\/strong><\/p>\n<p>Pacien\u0163i programa\u0163i pentru <strong>chirurgie aortic\u0103 <\/strong><strong>profilactic\u0103<\/strong><\/p>\n<p>Paciente cu boli cardiace ereditare care vor s\u0103 estimeze <strong>riscul de transmitere la f\u0103t \u00een cazul unei viitoare sarcini<\/strong><\/p>\n<p><strong>Preg\u0103tire pacient<\/strong> \u2013 nu este necesara pregatirea pacientilor.<\/p>\n<p><strong>Specimen recoltat<\/strong> \u2013 s\u00e2nge venos.<\/p>\n<p><strong>Recipient de recoltare<\/strong> \u2013 vacutainer cu EDTA, capac mov.<\/p>\n<p><strong>Cantitatea recoltat\u0103<\/strong> \u2013 5 ml.<\/p>\n<p><strong>Stabilitate prob\u0103:<\/strong> 7 zile la 2-8\u00ba C<\/p>\n<h2>Referin\u021be:<\/h2>\n<p><a href=\"http:\/\/www.medicover-genetics.com\/\" target=\"_blank\" rel=\"noopener nofollow external noreferrer\" data-wpel-link=\"external\">www.medicover-genetics.com<\/a><\/p>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Informatii generale despre profilul genetic pentru afectiuni aortice: Anomaliile aortice primare (aortopatii) sunt boli congenitale, condi\u021bionate genetic caracterizate prin defecte ce afecteaz\u0103: proteinele matricei extracelulare, calea de semnalizare TGF-beta \u0219i proteinele structurale ale musculaturii netede din vase. \u00cen timp ce primele dou\u0103 duc la modific\u0103ri \u00een \u021besutul conjunctiv al adventicei vaselor, cea de-a treia produce &hellip; <a href=\"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-pentru-afectiuni-aortice\/\">Continued<\/a><\/p>","protected":false},"featured_media":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"product_brand":[],"product_cat":[15],"product_tag":[],"class_list":{"0":"post-68476","1":"product","2":"type-product","3":"status-publish","5":"product_cat-uncategorized","7":"first","8":"instock","9":"shipping-taxable","10":"purchasable","11":"product-type-simple"},"_links":{"self":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product\/68476","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/types\/product"}],"replies":[{"embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/comments?post=68476"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=68476"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=68476"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=68476"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=68476"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}