{"id":68483,"date":"2025-02-19T11:09:09","date_gmt":"2025-02-19T09:09:09","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&#038;p=68483"},"modified":"2025-07-01T07:56:18","modified_gmt":"2025-07-01T04:56:18","slug":"testare-genetica-sindrom-ehler-danlos","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/testare-genetica-sindrom-ehler-danlos\/","title":{"rendered":"Testare genetica sindrom Ehler-Danlos"},"content":{"rendered":"<div class=\"info-tabs\">\n<div class=\"info-content content-informatii-generale\">\n<h2><strong>Informatii generale despre Testarea genetica sindrom Ehlers-Danlos:<\/strong><\/h2>\n<p>Sindromul Ehlers-Danlos cuprinde un grup heterogen din punct de vedere clinic \u0219i genetic de afec\u021biuni ale \u021besutului conjunctiv caracterizate prin hipermobilitate, tegument hiperelastic \u0219i fragilitate tisular\u0103.<\/p>\n<p>Clasificarea interna\u021bional\u0103, revizuit\u0103 \u00een 2017, propune 13 subtipuri de sindrom Ehlers- Danlos, \u00een func\u021bie de criteriile clinice, transmise autozomal dominant sau recesiv \u0219i care, \u00een afar\u0103 de subtipul cu hipermobilitate, pot fi confirmate de date genetice. Subtipurile autozomal dominante includ: artrocalazia (aSED), forma clasic\u0103 (cSED), forma periodontal\u0103 (pSED) \u0219i forma vascular\u0103 (vSED). Subtipurile autozomal recesive includ: sindromul de cornee fragil\u0103 (Brittle cornea syndrome), forma cardiac-valvular\u0103 (cvSED), forma classic-like (clSED), dermatosparaxis (dSED), forma cifoscoliotic\u0103 (kSED), forma musculocontractural\u0103 (mcSED) \u0219i forma spondilodisplastic\u0103 (spSED). Forma miopatic\u0103 de sindrom Ehlers-Danlos poate fi mo\u0219tenit\u0103 at\u00e2t dominant, c\u00e2t \u0219i recesiv.<\/p>\n<p>Subtipurile individuale de sindrom Ehlers-Danlos sunt cauzate de diferite variante genetice care determin\u0103 defecte de sinteza a colagenului, defecte \u00een procesarea \u0219i \u00eempachetarea colagenului, defecte \u00een structur\u0103 \u0219i func\u021bie, la interfa\u021ba dintre celula muscular\u0103 \u0219i matricea extracelular\u0103, defecte \u00een biosinteza glicozaminoglicanilor, \u00een calea complementului \u0219i a proceselor intracelulare. O diferen\u021biere clinic\u0103 clar\u0103 este greu de realizat \u00eentre subtipurile de sindrom Eheler-Danlos, manifest\u0103rile clinice put\u00e2ndu-se deseori suprapune cu alte afec\u0163iuni ale \u021besutului conjunctiv. Diagnosticul genetic poate realiza diferen\u021bierea \u00eentre aceste subtipuri.<\/p>\n<p><strong>29 gene vizate:<\/strong> ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DSE, EMILIN1,\u00a0FKBP14, FLNA, PHYKPL, PIEZO2, PLOD1, PLOD3, PRDM5, SLC2A10, SLC39A13, TNXB, ZNF469<\/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 ore, 2-8\u00b0C.<\/p>\n<p><a href=\"https:\/\/www.synevo.ro\/wp-content\/uploads\/2021\/09\/Oder-Form_Cardiac-Panels_sept2021.pdf\" target=\"_blank\" rel=\"noopener noreferrer nofollow\" data-wpel-link=\"internal\"><strong>Formular consim\u021b\u0103m\u00e2nt<\/strong><\/a><\/p>\n<p>Referin\u021be:<\/p>\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 Testarea genetica sindrom Ehlers-Danlos: Sindromul Ehlers-Danlos cuprinde un grup heterogen din punct de vedere clinic \u0219i genetic de afec\u021biuni ale \u021besutului conjunctiv caracterizate prin hipermobilitate, tegument hiperelastic \u0219i fragilitate tisular\u0103. Clasificarea interna\u021bional\u0103, revizuit\u0103 \u00een 2017, propune 13 subtipuri de sindrom Ehlers- Danlos, \u00een func\u021bie de criteriile clinice, transmise autozomal dominant sau recesiv &hellip; <a href=\"https:\/\/old.synevo.md\/ru\/shop\/testare-genetica-sindrom-ehler-danlos\/\">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-68483","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\/68483","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=68483"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=68483"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=68483"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=68483"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=68483"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}