{"id":14624,"date":"2016-02-15T14:50:04","date_gmt":"2016-02-15T14:50:04","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14624"},"modified":"2023-06-07T22:44:45","modified_gmt":"2023-06-07T19:44:45","slug":"brugada-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/brugada-sundroom\/","title":{"rendered":"Brugada s\u00fcndroom"},"content":{"rendered":"

Brugada s\u00fcndroomiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCC9, AKAP9, ANK2, CASQ2, CACNA1C, CACNA2D1, CACNB2, DSG, DSP, FGF12, GPD1L, HCN4, HEY2, KCNAB2, KCNB2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, KCNJ16, LRRC10, PKP2, PLN, RANGRF, RYR2, SCN4A, SCN5A, SCN1B, SCN2B, SCN3B, SCN10A, SCNN1A, SEMA3A, SLMAP, TBX5, TKT, TTN, TRPM4, XIRP1, XIRP2<\/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>\nSCN5A<\/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. Perekondliku riski hindamine<\/li>\n
  3. S\u00fcnnieelne diagnostika\u00a0teadaoleva mutatsiooni suhtes<\/li>\n
  4. Diferentsiaaldiagnostika eristamaks \u00a0Brugada s\u00fcndroomi teistest p\u00e4rilikest s\u00fcdamehaigustest.<\/li>\n
  5. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Brugada s\u00fcndroomile<\/strong>, mida p\u00f5hjustab ioonkanali h\u00e4ire, on omane ST-segmendi elevatsioon EKG\u00a0V1<\/sub>-V3<\/sub>\u00a0l\u00fclituses ja suurenenud s\u00fcdame \u00e4kksurma risk patsientidel, kelle s\u00fcdame struktuur vastab normile. Brugada s\u00fcndroom v\u00e4ljendub enamasti t\u00e4iskasvanueas, patsientidel vanuses\u00a020 kuni 40.<\/p>\n

    S\u00fcmptomid h\u00f5lmavad ventrikulaarset ar\u00fctmiat, s\u00fcnkoopi ja s\u00fcdameseiskumist, mis toimuvad reeglina kas magamise v\u00f5i puhkeoleku ajal, on t\u00e4heldatud ka s\u00fcdame \u00e4kksurma eelnevate kliiniliste s\u00fcmptomiteta. Brugada s\u00fcndroom \u00a0v\u00f5ib kattuda s\u00fcdame juhteteede haiguse s\u00fcmptomitega. Diferentsiaaldiagnostika v\u00f5ib h\u00f5lmata s\u00fcmptomeid nagu I astme\u00a0AV\u00a0blokaad, intraventrikulaarne\u00a0juhteteede viivitus,\u00a0Hisi kimbu parema s\u00e4\u00e4re blokaad\u00a0ja siinuss\u00f5lme n\u00f5rkuse s\u00fcndroom.<\/p>\n

    Brugada\u00a0s\u00fcndroomi esinemissagedus on hinnanguliselt 5 : 10 000 ning kuigi see esineb nii meestel kui naistel, on seda meestel rohkem t\u00e4heldatud.\u00a0Brugada s\u00fcndroom on autosoom-dominantselt p\u00e4ritav.<\/p>","protected":false},"excerpt":{"rendered":"

    Brugada s\u00fcndroomiga seotud geenide sekveneerimine Geenid: ABCC9, AKAP9, ANK2, CASQ2, CACNA1C, CACNA2D1, CACNB2, DSG, DSP, FGF12, GPD1L, HCN4, HEY2, KCNAB2, KCNB2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, KCNJ16, LRRC10, PKP2, PLN, RANGRF, RYR2, SCN4A, SCN5A, SCN1B, SCN2B, SCN3B, SCN10A, SCNN1A, SEMA3A, SLMAP, TBX5, TKT, TTN, TRPM4, XIRP1, XIRP2 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline […]<\/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-14624","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14624","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=14624"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14624\/revisions"}],"predecessor-version":[{"id":28913,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14624\/revisions\/28913"}],"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=14624"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}