{"id":15225,"date":"2016-03-29T09:52:34","date_gmt":"2016-03-29T08:52:34","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=15225"},"modified":"2026-04-14T12:14:47","modified_gmt":"2026-04-14T09:14:47","slug":"parkinsoni-tobi","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/parkinsoni-tobi\/","title":{"rendered":"Parkinsoni t\u00f5bi"},"content":{"rendered":"

Parkinsoni t\u00f5vega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nADH1C, ATP1A3, ATP13A2, ATP6AP2, ATXN2, CHCHD2, DCTN1, DNAJC6, DNAJC13, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK7, PINK1, PLA2G6, PODXL, PRKN, PRKRA, PTRHD1, RAB39B, SLC6A3, SLC30A10, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TBP (va ekson 3), TH, TMEM230, UCHL1, VPS35, VPS13C, VPS13A, XK<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (NGS).
\nKoopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, vastavalt hinnakirjale.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n6-9 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

Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nATP13A2, GCH1, LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nMLPA<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n4-6 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. Diferentsiaaldiagnostika eristamaks mainitud grupi s\u00fcndroome<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Parkinsoni t\u00f5bi<\/strong>\u00a0on\u00a0progresseeruv neurodegeneratiivne haigus, mis m\u00f5jutab peamiselt motoorikat. Parkinsoni t\u00f5vele on omane treemor, j\u00e4ikus, brad\u00fckineesia ehk liigutuste aeglustumine, halb tasakaal ja raskused k\u00f5ndimisel. Motoorikat mitte puudutavad leiud h\u00f5lmavad unetust, depressiooni, \u00e4ngistust\u00a0ja k\u00e4itumisprobleeme. Haiguse hilisemas faasis v\u00f5ivad lisanduda ka ps\u00fchhoos ja dementsus.<\/p>\n

    Parkinsoni t\u00f5bi h\u00f5lmab enamjaolt mitmeid geene ning lisaks ka keskkonnast tulenevaid riske. M\u00f5ningad Parkinsoni vormid on seotud \u00fche geeniga, need on enamasti autosoom-dominantsed v\u00f5i autosoom-retsessiivsed, harvem X-liitelised. K\u00f5ige enam levinud sporaadiline Parkinsoni t\u00f5ve vorm avaldub reeglina 60. eluaasta paiku, kuigi on t\u00e4heldatud ka nii nooruki- kui juveniilses eas algavat Parkinsoni t\u00f5be.<\/p>","protected":false},"excerpt":{"rendered":"

    Parkinsoni t\u00f5vega seotud geenide sekveneerimine Geenid: ADH1C, ATP1A3, ATP13A2, ATP6AP2, ATXN2, CHCHD2, DCTN1, DNAJC6, DNAJC13, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK7, PINK1, PLA2G6, PODXL, PRKN, PRKRA, PTRHD1, RAB39B, SLC6A3, SLC30A10, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TBP (va ekson 3), TH, TMEM230, UCHL1, VPS35, VPS13C, VPS13A, XK Metoodika: Kodeeriva piirkonna sekveneerimine […]<\/p>\n","protected":false},"author":2,"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-15225","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/15225","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\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/comments?post=15225"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/15225\/revisions"}],"predecessor-version":[{"id":29533,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/15225\/revisions\/29533"}],"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=15225"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}