{"id":18082,"date":"2016-12-19T09:17:11","date_gmt":"2016-12-19T09:17:11","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=18082"},"modified":"2021-06-08T11:08:56","modified_gmt":"2021-06-08T08:08:56","slug":"hupertroofiline-kardiomuopaatia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/hupertroofiline-kardiomuopaatia\/","title":{"rendered":"H\u00fcpertroofiline kardiom\u00fcopaatia"},"content":{"rendered":"

H\u00fcpertroofilise kardiom\u00fcopaatiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Genes:<\/strong><\/td>\nACTC1, ACTN2, AGK, ANKRD1,\u00a0CALR3, CAV3, CRYAB, CSRP3, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, RAF1, SLC25A4, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL<\/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
Genes:<\/strong><\/td>\nBAG3, MYBPC3, MYH7, TNNT2<\/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

2 \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<\/li>\n
  3. Patsiendi pereliikmete testimine<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    H\u00fcpertroofilisele kardiom\u00fcopaatiale<\/strong> on iseloomulik vasakpoolne ventrikulaarne h\u00fcpertroofia, mis pole tingitud kroonilisest h\u00fcpertensioonist ega aordi stenoosist. H\u00fcpertroofiline kardiom\u00fcopaatia on sagedaseim \u00e4kksurma p\u00f5hjus noortel sportlastel. Kliinilised s\u00fcmptomid v\u00f5ivad varieeruda as\u00fcmptomaatilisest vasakpoolsest ventrikulaarsest h\u00fcpertroofiast kuni ar\u00fctmiate ja refraktaarse s\u00fcdamepuudulikkuseni. S\u00fcmptomitest v\u00f5ivad esineda veel \u00f5hupuudus, ortostaas, pres\u00fcnkoop, s\u00fcnkoop, palpitatsioonid ja rinnaku valu.<\/p>\n

    Haiguse sagedus \u00fcldpopulatsioonis on 1 : 500.<\/p>\n

    Enamasti on h\u00fcpertroofilise kardim\u00fcopaatia p\u00f5hjuseks mutatsioonid geenides, mis kodeerivad sarkomeeri erinevad komponente ja mis p\u00e4randuvad autosoom-dominantsel teel. 3-5% juhtudest v\u00f5ib esineda kaks mutatsiooni samas geenis (liit-heteros\u00fcgootsus v\u00f5i homos\u00fcgootsus) v\u00f5i erinevates geenides. Sellisel juhul on tegemist haiguse varasema avaldumisega ja raskemate ning rohkemate kaasnevate s\u00fcmptomitega.<\/p>","protected":false},"excerpt":{"rendered":"

    H\u00fcpertroofilise kardiom\u00fcopaatiaga seotud geenide sekveneerimine Genes: ACTC1, ACTN2, AGK, ANKRD1,\u00a0CALR3, CAV3, CRYAB, CSRP3, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, RAF1, SLC25A4, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise […]<\/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-18082","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/18082","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=18082"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/18082\/revisions"}],"predecessor-version":[{"id":27557,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/18082\/revisions\/27557"}],"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=18082"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}