{"id":19693,"date":"2017-06-19T10:44:02","date_gmt":"2017-06-19T09:44:02","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=19693"},"modified":"2023-08-25T14:09:22","modified_gmt":"2023-08-25T11:09:22","slug":"arutmogeenne-parema-vatsakese-dusplaasiakardiomuopaatia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/arutmogeenne-parema-vatsakese-dusplaasiakardiomuopaatia\/","title":{"rendered":"Ar\u00fctmogeenne parema vatsakese d\u00fcsplaasia\/kardiom\u00fcopaatia"},"content":{"rendered":"

Ar\u00fctmogeense parema vatsakese d\u00fcsplaasia\/
\nkardiom\u00fcopaatiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nCTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN<\/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-
\nmaterjalile:<\/strong><\/td>\n		2-4 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
\nA260\/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
\n<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nDSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3<\/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-
\nmaterjalile:<\/strong><\/td>\n		2-4 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
\nA260\/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. Perekondliku riski hindamine<\/li>\n
  3. Patsientide testimine, kellel esineb ar\u00fctmia koos ebat\u00fc\u00fcpilise kardiom\u00fcopaatiaga<\/li>\n
  4. S\u00fcnnieelne diagnostika\u00a0teadaoleva mutatsiooni suhtes<\/li>\n
  5. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Ar\u00fctmogeenset parema vatsakese kardiom\u00fcopaatiat<\/strong> iseloomustab progresseeruv s\u00fcdamelihaskoe asendumine side- ja rasvkoega, tekitades vatsakeste tahh\u00fckardiat. Haigusest on enamasti haaratud parem vatsake ja osadel juhtudel ka vasak vatsake. Sagedasemad s\u00fcmptomid on s\u00fcdame puperdamine ja minestushood. Kardiom\u00fcopaatia v\u00f5ib p\u00f5hjustada \u00e4kksurma.<\/p>\n

    Haiguse s\u00fcmptomid v\u00f5ivad suurem m\u00e4\u00e4ral varieeruda ja osade patsientide puhul ei pruugi kliiniline pilt vastata t\u00fc\u00fcpilistele kriteeriumitele. Patsientide keskmine vanus diagnoosimisel on 31 eluaastat.<\/p>\n

    Haigus p\u00e4randub enamasti autosoom-dominantsel<\/strong> teel.<\/p>","protected":false},"excerpt":{"rendered":"

    Ar\u00fctmogeense parema vatsakese d\u00fcsplaasia\/ kardiom\u00fcopaatiaga seotud geenide sekveneerimine Geenid: CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN 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 […]<\/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-19693","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19693","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=19693"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19693\/revisions"}],"predecessor-version":[{"id":28981,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19693\/revisions\/28981"}],"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=19693"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}