{"id":72521,"date":"2025-05-28T11:09:56","date_gmt":"2025-05-28T08:09:56","guid":{"rendered":"https:\/\/synevo.md\/?post_type=product&#038;p=72521"},"modified":"2025-07-01T07:56:12","modified_gmt":"2025-07-01T04:56:12","slug":"profil-genetic-pentru-defecte-cardiace-congenitale","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-pentru-defecte-cardiace-congenitale\/","title":{"rendered":"Profil genetic pentru defecte cardiace congenitale"},"content":{"rendered":"<div class=\"info-tabs\">\n<div class=\"info-content content-informatii-generale\">\n<h2><strong>Informatii generale despre Profilul genetic pentru defecte cardiace congenitale:<\/strong><\/h2>\n<p>Defectele cardiace congenitale sunt detectate la aproximativ 8\/1000 nou-n\u0103scu\u0163i vii \u0219i sunt unele dintre cele mai comune cauze de mortalitate \u0219i morbiditate la copii, \u00een \u00eentreaga lume. Acestea prezint\u0103 frecvent agregare familial\u0103, at\u00e2t \u00een form\u0103 izolat\u0103 c\u00e2t \u0219i \u00een form\u0103 sindromic\u0103.<\/p>\n<p>Mai mult de 80 de gene sunt cunoscute c\u0103 fiind asociate cu defecte cardiace congenitale izolate sau sindromice. Este acum posibil\u0103 diagnosticarea cauzelor genetice ale defectelor cardiace congenitale, ca de exemplu: defect septal atrial, defect septal ventricular, tetralogie Fallot, transpozi\u021bie de vase mari, sindromul de cord st\u00e2ng hipoplazic, stenoza aortic\u0103, stenoza pulmonar\u0103, defecte cono-truncale, anomalie Epstein \u0219i heterotaxia, precum \u0219i RAS-opatiile \u0219i alte sindroame familiale.<\/p>\n<p>Cauzele sunt diverse \u0219i, de obicei, multifactoriale. Ast\u0103zi se cunoa\u0219te faptul c\u0103 defectele cardiace congenitale au baza genetic\u0103, \u00een timp ce factorii de mediu suspiciona\u0163i sunt \u00eenc\u0103 incomplet elucida\u0163i. Panelul nostru comprehensiv, cu 91 de gene, poate acoperi o gam\u0103 larg\u0103 de defecte cardiace congenitale cum ar fi: sindromul Alagille, defecte cardiace congenitale izolate sau sindromice, RASopatii \u0219i heterotaxia. \u00cen plus, oferim paneluri pentru diagnosticul \u021bintit al diverselor tipuri de defecte cardiace congenitale.<\/p>\n<p><strong>91 de gene vizate:\u00a0<\/strong>ACTC1, ACVR2B, ADAMTS10, ARHGAP31, BMPR2, BRAF, CBL, CFAP53, CHD7, CITED2, CREBBP, CRELD1, DNAH11, DNAH5, DNAI1, DOCK6, DTNA, EHMT1, ELN, EOGT, EP300, EVC, EVC2, FBN1, FBN2, FLNA, FOXC1, FOXH1, FOXP1, GATA4, GATA5, GATA6, GDF1, GJA1, GPC3, HRAS, JAG1, KDM6A, KMT2D, KRAS, LEFTY2, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MGP, MMP21, MRAS, MYH11, MYH6, NF1, NIPBL, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NPHP4, NR2F2, NRAS, NSD1, PITX2, PKD1L1, PPP1CB, PTPN11, RAF1, RBM10, RBPJ, RIT1, RRAS, SALL1, SALL4, SEMA3E, SHOC2, SMAD6, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX3, TBX5, TFAP2B, TGFBR1, TGFBR2, TLL1, ZEB2, ZFPM2, ZIC3<\/p>\n<p><strong>SINDROAME INCLUSE<\/strong><\/p>\n<ul>\n<li>Sindromul Adams-Oliver<\/li>\n<li>Sindromul Alagille<\/li>\n<li>Sindromul Char<\/li>\n<li>Sindromul CHARGE<\/li>\n<li>Sindromul Cornelia-de-Lange<\/li>\n<li>Sindromul Costello<\/li>\n<li>Sindromul Ellis-van Creveld<\/li>\n<li>Sindromul de heterotaxie<\/li>\n<li>Sindromul Holt-Oram<\/li>\n<li>Sindromul Kabuki<\/li>\n<li>Sindromul Keutel<\/li>\n<li>Sindromul Kleefstra<\/li>\n<li>Sindromul Loeys-Dietz<\/li>\n<li>Sindromul Lujan-Fryns<\/li>\n<li>Sindromul Mowat-Wilson<\/li>\n<li>Sindromul Noonan<\/li>\n<li>Sindromul Williams-Beuren<\/li>\n<\/ul>\n<p><strong>SIMPTOME POSIBILE:<\/strong><\/p>\n<ul>\n<li>Cianoz\u0103 a pielii, buzelor \u015fi unghiilor<\/li>\n<li>Dispnee<\/li>\n<li>Tahipnee \u015fi tahicardie<\/li>\n<li>Edeme ale tesuturilor si organelor<\/li>\n<li>Fatigabilitate<\/li>\n<li>Intoleran\u021ba la efort fizic \u2013 sincope<\/li>\n<\/ul>\n<p><strong>POPULA\u021aIA \u021aINT\u0102:<\/strong><\/p>\n<p><strong>Pacien\u0163i cu defecte cardiace <\/strong><strong>\u0432\u0440\u043e\u0436\u0434\u0435\u043d\u043d\u044b\u0435<\/strong>, sau cu istoric pozitiv, care vor s\u0103-\u015fi \u00eentemeieze o familie<\/p>\n<p>Copii n\u0103scu\u0163i <strong>cu <\/strong><strong>defecte cardiace<\/strong><\/p>\n<p><strong>Copii cu retard \u00een neurodezvoltare<\/strong>, care ar putea asocia \u015fi o boal\u0103 cardiac\u0103 ereditar\u0103<\/p>\n<h2><strong>Preg\u0103tire pacient <\/strong><\/h2>\n<p>nu este necesar\u0103 o pregatire special\u0103<\/p>\n<p><strong>Specimen recoltat <\/strong>\u2013 s\u00e2nge venos<\/p>\n<p><strong>Recipient de recoltare<\/strong> \u2013 vacutainer ce con\u0163ine EDTA ca anticoagulant<\/p>\n<p><strong>Cauze de respingere a probei<\/strong> \u2013 folosirea heparinei ca anticoagulant; probe coagulate sau hemolizate<\/p>\n<p><strong>Stabilitate prob\u0103 <\/strong>\u2013 7 zile la 2-8<sup>o<\/sup>\u0412<\/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 defecte cardiace congenitale: Defectele cardiace congenitale sunt detectate la aproximativ 8\/1000 nou-n\u0103scu\u0163i vii \u0219i sunt unele dintre cele mai comune cauze de mortalitate \u0219i morbiditate la copii, \u00een \u00eentreaga lume. Acestea prezint\u0103 frecvent agregare familial\u0103, at\u00e2t \u00een form\u0103 izolat\u0103 c\u00e2t \u0219i \u00een form\u0103 sindromic\u0103. Mai mult de 80 de &hellip; <a href=\"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-pentru-defecte-cardiace-congenitale\/\">Continued<\/a><\/p>","protected":false},"featured_media":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"product_brand":[],"product_cat":[969],"product_tag":[],"class_list":{"0":"post-72521","1":"product","2":"type-product","3":"status-publish","5":"product_cat-teste-de-genetica-umana","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\/72521","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=72521"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=72521"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=72521"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=72521"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=72521"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}