{"id":28944,"date":"2023-06-15T12:07:38","date_gmt":"2023-06-15T09:07:38","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=28944"},"modified":"2024-11-02T16:31:42","modified_gmt":"2024-11-02T14:31:42","slug":"gilberti-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-metabolic-disorders-testid\/gilberti-sundroom\/","title":{"rendered":"Gilberti s\u00fcndroom"},"content":{"rendered":"

Gilberti s\u00fcndroomiga seotud \u00a0UGT1A1 geenivariandi anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nUGT1A1 geenivariant c.-41_-40 dupTA (UGT1A1*28)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nSanger sekveneerimine<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n2-4 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-materjalile:<\/strong><\/td>\n2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l
\nDNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav \u00fche tervikliku b\u00e4ndina.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\n\n\n\n
Tellimine:<\/strong><\/td>\nProovimaterjal saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Gilberti s\u00fcndroom on healoomuline p\u00e4rilik bilirubiini ainevahetuse h\u00e4ire maksas, mille tagaj\u00e4rjel t\u00f5useb veres toksilise bilirubiini tase. Esinemissagedus on erinevates populatsioonides 4-16%. Haigus avaldub sagedamini meestel kui naistel. Peamiseks s\u00fcmptomiks on episoodidena kulgev naha, limaskestade ja silma klaaskeha kollasus, mis tuleneb konjugeerimata bilirubiini taseme t\u00f5usust organismis. Esimene episood tekib tavaliselt noorukieas<\/p>","protected":false},"excerpt":{"rendered":"

Gilberti s\u00fcndroomiga seotud \u00a0UGT1A1 geenivariandi anal\u00fc\u00fcs Geen: UGT1A1 geenivariant c.-41_-40 dupTA (UGT1A1*28) Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 n\u00e4dalat N\u00f5uded proovi-materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l DNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis […]<\/p>\n","protected":false},"author":9,"featured_media":0,"parent":20741,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-28944","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t