{"id":14313,"date":"2016-01-28T11:18:55","date_gmt":"2016-01-28T11:18:55","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14313"},"modified":"2017-08-03T11:21:44","modified_gmt":"2017-08-03T08:21:44","slug":"jervelli-ja-lange-nielsoni-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-otogenetics-testid\/jervelli-ja-lange-nielsoni-sundroom\/","title":{"rendered":"Jervelli ja Lange-Nielsoni s\u00fcndroom"},"content":{"rendered":"

Jervelli ja Lange-Nielsoni s\u00fcndroomiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nKCNE1,\u00a0KCNQ1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (Sanger)<\/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

1,7 \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 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<\/strong><\/span><\/a> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

N\u00e4idustused geenitesti tegemiseks:<\/strong><\/p>\n

    \n
  1. Kliinilise diagnoosi kinnitamine<\/li>\n
  2. Patsiendi pereliikmete testimine<\/li>\n
  3. Kandluse m\u00e4\u00e4ramine teadaoleva mutatsiooni suhtes<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Jervelli ja Lange-Nielsoni s\u00fcndroomile<\/strong> (JLNS) on iseloomulik s\u00fcgav kaasas\u00fcndinud kahepoolne sensorineuraalne kuulmislangus ja pikenenud QT-intervall\u00a0ventrikulaarsete tahh\u00fcar\u00fctmiatega. S\u00fcdameh\u00e4ired, mida peamiselt p\u00f5hjustavad stress ja\u00a0treening, v\u00f5ivad l\u00f5ppeda s\u00fcnkoopia v\u00f5i \u00e4kksurmaga. 50% s\u00fcndroomi p\u00f5devatest isikutest arenevad s\u00fcmptomid v\u00e4lja enne kolmandat eluaastat. Sageli viitab JLNS haigusele ka\u00a0 rauavaegusaneemia ning\u00a0k\u00f5rgenenud gastriini tase.<\/p>\n

    JLNS p\u00e4randub autosoom-retsessiivsel teel.<\/p>\n

    Hinnanguliselt esineb JLNSi 1.6 kuni 6 juhtumit 1 miljoni kohta. Norras ja Rootsis on see sagedus kuni 1:200,000.<\/p>","protected":false},"excerpt":{"rendered":"

    Jervelli ja Lange-Nielsoni s\u00fcndroomiga seotud geenide sekveneerimine Geenid: KCNE1,\u00a0KCNQ1 Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 n\u00e4dalat N\u00f5uded proovi-materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 1,7 \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 olema […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14181,"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-14313","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t