{"id":28371,"date":"2023-01-04T18:52:36","date_gmt":"2023-01-04T16:52:36","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=28371"},"modified":"2023-01-09T12:13:26","modified_gmt":"2023-01-09T10:13:26","slug":"unverricht-lundborgi-tobi-i-tuupi-progresseeruv-muoklooniline-epilepsia-epm1","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/unverricht-lundborgi-tobi","title":{"rendered":"Unverricht-Lundborgi t\u00f5bi"},"content":{"rendered":"

Unverricht-Lundborgi t\u00f5vega seotud geenide sekveneerimine (I t\u00fc\u00fcpi progresseeruv m\u00fcoklooniline epilepsia)
\n<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nEPM1 (CSTB)<\/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 \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

 <\/p>\n

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

    \n
  1. Kliinilise diagnoosi kinnitamine<\/li>\n
  2. Patsiendi pereliikmete testimine<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

     <\/p>\n

    Unverricht-Lundborgi t\u00f5bi (ULD) on progresseeruva m\u00fcokloonuse ehk kontrollimatu liikumise epilepsia, neurodegeneratiivse h\u00e4ire p\u00e4rilik vorm. Varaste s\u00fcmptomite hulka kuuluvad tahtmatud lihast\u00f5mblused v\u00f5i t\u00f5mblused (stiimulitundlik m\u00fcokloonus) ja krambid. Episoode v\u00f5ivad esile kutsuda f\u00fc\u00fcsiline koormus, stress, valgus v\u00f5i muud k\u00e4ivitajad. Aja jooksul v\u00f5ib tekkida ULD-ga inimestel ataksia, koordinatsiooni puudumine, v\u00e4rinad ja k\u00f5neh\u00e4ired (d\u00fcsartria). Haigust iseloomustab neurodegeneratsiooni algus vanuses 6\u201315 aastat. Kuigi seda peetakse progresseeruvaks m\u00fcoklooniliseks epilepsiaks, erineb see haiguse teistest vormidest selle poolest, et n\u00e4ib progresseeruvat ainult noorukieas ning m\u00fcokloonus ja ataksia halvenevad j\u00e4rsult esimese 6 aasta jooksul p\u00e4rast haiguse algust. Haigus stabiliseerub varases t\u00e4iskasvanueas ning m\u00fcokloonus ja ataksia v\u00f5ivad isegi paraneda.<\/p>\n

    ULD on p\u00f5hjustatud geneetilistest muutustest CSTB geenis ja p\u00e4randumine on autosoom-retsessiivne.<\/p>\n

     <\/p>","protected":false},"excerpt":{"rendered":"

    Unverricht-Lundborgi t\u00f5vega seotud geenide sekveneerimine (I t\u00fc\u00fcpi progresseeruv m\u00fcoklooniline epilepsia) Geenid: EPM1 (CSTB) 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 \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. […]<\/p>\n","protected":false},"author":11,"featured_media":0,"parent":14761,"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-28371","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/28371","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/users\/11"}],"replies":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/comments?post=28371"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/28371\/revisions"}],"predecessor-version":[{"id":28640,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/28371\/revisions\/28640"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14761"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=28371"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}