{"id":20643,"date":"2017-10-16T11:50:00","date_gmt":"2017-10-16T08:50:00","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=20643"},"modified":"2020-06-16T16:02:01","modified_gmt":"2020-06-16T13:02:01","slug":"luhikese-qt-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/luhikese-qt-sundroom\/","title":{"rendered":"L\u00fchikese QT s\u00fcndroom"},"content":{"rendered":"

L\u00fchikese QT s\u00fcndroomiga seotud
\ngeenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nCACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1<\/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

N\u00e4idustused geenitesti tegemiseks<\/strong>:
\n1. Kliinilise diagnoosi kinnitamine
\n2. Patsiendi pereliikmete testimine
\n3. Geneetiline n\u00f5ustamine<\/p>\n

L\u00fchikese QT s\u00fcndroom<\/strong> on r\u00fctmih\u00e4ire, mida iseloomustab QT-aja l\u00fchenemine EKGs (\u2264 340 ms). Kliiniline pilt v\u00f5ib varieeruda suures ulatuses. Haigus v\u00f5ib kulgeda as\u00fcmptomaatiliselt (kuni 40% juhtudel), kuid v\u00f5ib esineda pearinglust, kodade virvendust, ventrikulaarset ar\u00fctmiat, minestamist ja isegi s\u00fcdame seiskumist. Uuringud n\u00e4itavad, et k\u00f5ige suurem risk s\u00fcdame seiskumiseks on esimesel eluaastal ning 20. ja 40. eluaasta vahel.<\/p>\n

Geneetilised muutused haigusega seotud geenides p\u00e4randuvad autosoom-dominantsel teel ja on suure penetrantsusega.<\/p>\n

Haiguse sagedus \u00fcldpopulatsioonis on 0,02-0,1% t\u00e4iskasvanute ja 0,05% laste puhul.<\/p>","protected":false},"excerpt":{"rendered":"

L\u00fchikese QT s\u00fcndroomiga seotud geenide sekveneerimine Geenid: CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 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, […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14537,"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-20643","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20643","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=20643"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20643\/revisions"}],"predecessor-version":[{"id":26021,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20643\/revisions\/26021"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14537"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=20643"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}