{"id":28379,"date":"2023-01-04T19:06:45","date_gmt":"2023-01-04T17:06:45","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=28379"},"modified":"2026-06-05T14:26:27","modified_gmt":"2026-06-05T11:26:27","slug":"okulofarungeaalne-lihasdustroofia-opmd","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/okulofarungeaalne-lihasdustroofia\/","title":{"rendered":"Okulofar\u00fcngeaalne lihasd\u00fcstroofia"},"content":{"rendered":"

Okulofar\u00fcngeaalne lihasd\u00fcstroofia
\n<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nOPMD (PABPN1)<\/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

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

    \u00a0<\/strong><\/p>\n

    Okulofar\u00fcngeaalne d\u00fcstroofia on tavaliselt autosoomne dominantne alles t\u00e4iskasvanueas algav haigus (s\u00fcmptomid kirjeldatud p\u00e4rast 40. eluaastat). On kirjeldatud ka selle haiguse autosoomset retsessiivset t\u00fc\u00fcpi. Haigus algab ajavahemikus neljandast kuuenda eluk\u00fcmnendini, v\u00e4ljendudes ptoosina (\u00fclemise silmalau allavaje), mis haiguse algstaadiumis v\u00f5ib olla as\u00fcmmeetriline. Lisandub neelamish\u00e4ire (d\u00fcsfaagia) ja kujuneb m\u00f5ningane n\u00e4olihaste n\u00f5rkus. OPMD histoloogiliseks tunnuseks on unikaalsete tuumasiseste filamentide kuhjumine skeletilihaskiududesse (Tome et al., 1995). OPMD-d on kirjeldatud \u00fclemaailmselt erinevates etnilistes r\u00fchmades.<\/p>","protected":false},"excerpt":{"rendered":"

    Okulofar\u00fcngeaalne lihasd\u00fcstroofia Geenid: OPMD (PABPN1) 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 pikkusmarkeri juuresolekul olema detekteeritav \u00fche tervikliku b\u00e4ndina. […]<\/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-28379","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t