{"id":67220,"date":"2025-01-29T09:51:04","date_gmt":"2025-01-29T07:51:04","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&p=67220"},"modified":"2025-07-01T07:56:19","modified_gmt":"2025-07-01T04:56:19","slug":"profil-genetic-pentru-sindroame-marfan-like","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-pentru-sindroame-marfan-like\/","title":{"rendered":"Profil genetic pentru sindroame Marfan-like"},"content":{"rendered":"
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Informatii generale Profilul genetic pentru sindroame Marfan-like:<\/strong><\/h2>\n

Context clinic:<\/strong><\/p>\n

Ectopia cristalinului este produs\u0103 de o variant\u0103 heterozigot\u0103 \u00een gena FBN1 \u0219i este caracterizat\u0103 prin luxa\u021bia cristalinului, neasociat\u0103 cu dilatarea r\u0103d\u0103cinii aortei. Disloca\u0163ia de cristalin este cauzat\u0103 de variante homozigote sau heterozigote compuse, \u00een gena ADAMTS4, caracterizate prin transmitere autozomal recesiv\u0103.<\/p>\n

Fenotipul MASS este determinat, de asemenea, de variante patogene \u00een gena FBN1. Simptomatologia include miopie, prolaps de valv\u0103 mitral\u0103, dilata\u021bia r\u0103d\u0103cinii aortei, afectare scheletic\u0103 \u0219i muscular\u0103. Variante patogene \u00een gena SKI declan\u0219eaz\u0103 sindromul Shprintzen-Goldberg. Datorit\u0103 suprapunerii fenotipice a manifest\u0103rilor cardiovasculare, scheletice, tegumentare, craniofaciale, acest sindrom necesit\u0103 un diagnostic diferen\u021bial cu sindroamele Loeys-Dietz \u0219i Marfan. Alte manifest\u0103ri pot include retardul mintal, hipotonia musculaturii scheletice \u0219i habitus marfanoid.<\/p>\n

Arahnodactilia contractural\u0103 congenital\u0103 este provocat\u0103 de variante patogene \u00een gena FBN2. Simptomele includ habitus marfanoid, arahnodactilie, contracturi articulare, cifoscolioz\u0103, hipotonie muscular\u0103, displazie auricular\u0103 \u0219i dilatarea r\u0103d\u0103cinii aortice. Sindromul Lujan-Fryns, sau retardul mintal X-linkat cu habitus marfanoid, este o boal\u0103 X-linkata recesiv\u0103, \u00een care se reg\u0103sesc variante patogene \u00een genele MED12, UPF3B \u0219i ZDHHC9. Simptomatologia include habitus marfanoid, dismorfie craniofacial\u0103, hipotonie muscular\u0103 generalizat\u0103 \u0219i tulbur\u0103ri de comportament.<\/p>\n

Sindromul Weill-Marchesani este produs de variante patogene \u00een stare de homozigotie sau heterozigotie compus\u0103 \u00een gena ADMATS10. Variante patogene \u00een una dintre genele LTBP2, ADAMTS17 \u0219i FBN1, pot, de asemenea, determin\u0103 sindrom Weill- Marchesani. Clinic, apare afectare ocular\u0103 (microsferofachie, miopie sever\u0103, ectopie de cristalin \u0219i glaucom), statur\u0103 mic\u0103, brahidactilie, rigiditate articular\u0103 \u0219i anomalii cardiace (stenoz\u0103 pulmonar\u0103, regurgitare mitral\u0103 \u0219i stenoz\u0103 aortic\u0103).<\/p>\n

12 gene vizate: <\/strong>ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, FBN1, FBN2, LTBP2, LTBP3,\u00a0MED12, SKI, UPF3B, ZDHHC9<\/p>\n\n\n\n\n\n\n\n\n\n\n
<\/td>\nPREVALEN\u021a\u0102<\/strong><\/td>\nTRANSMITERE<\/strong><\/td>\n<\/tr>\n
Arahnodactilia contractural\u0103 congenital\u0103<\/td>\n1\u00a0:10000<\/td>\nAutozomal dominant\u0103<\/td>\n<\/tr>\n
Ectopie de cristalin \u015fi ectopie de cristalin 2<\/td>\n<\u00a01:1000000<\/td>\nAutozomal dominant\u0103 sau recesiv\u0103<\/td>\n<\/tr>\n
Sindromul Lujan-Fryns<\/td>\nNecunoscut\u0103<\/td>\nX-linkat\u0103 recesiv\u0103<\/td>\n<\/tr>\n
Fenotip MASS<\/td>\n2,4%\u00a0(popula\u0163ia general\u0103)<\/td>\nX-linkat\u0103 sau\u00a0autozomal dominant\u0103<\/td>\n<\/tr>\n
Sindromul Shprintzen- Goldberg<\/td>\nNecunoscut<\/td>\nAutozomal dominant\u0103<\/td>\n<\/tr>\n
Sindromul\u00a0Weill-Marchesani<\/td>\n1:100000<\/td>\nAutozomal dominant\u0103 sau recesiv\u0103<\/td>\n<\/tr>\n
<\/td>\n<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Preg\u0103tire pacient <\/strong><\/h2>\n

Nu este necesara pregatirea pacientilor.<\/p>\n

Specimen recoltat <\/strong>\u2013 s\u00e2nge venos.<\/p>\n

Recipient de recoltare <\/strong>\u2013 vacutainer cu EDTA, capac mov.<\/p>\n

Cantitatea recoltat\u0103 <\/strong>\u2013 5 ml.<\/p>\n

Stabilitate prob\u0103: <\/strong>72 ore, 2-8\u00b0C.<\/p>\n

Referin\u021be:<\/h2>\n

www.medicover-genetics.com<\/a><\/p>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"

Informatii generale Profilul genetic pentru sindroame Marfan-like: Context clinic: Ectopia cristalinului este produs\u0103 de o variant\u0103 heterozigot\u0103 \u00een gena FBN1 \u0219i este caracterizat\u0103 prin luxa\u021bia cristalinului, neasociat\u0103 cu dilatarea r\u0103d\u0103cinii aortei. Disloca\u0163ia de cristalin este cauzat\u0103 de variante homozigote sau heterozigote compuse, \u00een gena ADAMTS4, caracterizate prin transmitere autozomal recesiv\u0103. Fenotipul MASS este determinat, de … 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-67220","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\/67220","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=67220"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=67220"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=67220"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=67220"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=67220"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}