{"id":20612,"date":"2017-10-13T16:42:24","date_gmt":"2017-10-13T13:42:24","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=20612"},"modified":"2023-06-07T22:50:10","modified_gmt":"2023-06-07T19:50:10","slug":"dilateeruv-kardiomuopaatia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/dilateeruv-kardiomuopaatia\/","title":{"rendered":"Dilateeruv kardiom\u00fcopaatia"},"content":{"rendered":"

Dilateeruva kardiom\u00fcopaatiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FLNC, GATAD1, JPH2, JUP, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, NKX2-5, OBSCN, PRDM16, PKP2, PLN, PSEN2, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL
\n<\/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>\nBAG3, 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

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

1. Kliinilise diagnoosi kinnitamine
\n2. Diferentsiaaldiagnostika
\n3. Patsiendi pereliikmete testimine
\n4. Geneetiline n\u00f5ustamine<\/p>\n

Dilateeruv kardiom\u00fcopaatia<\/strong> (DKM) on progresseeruv s\u00fcdamelihase haigus, mida iseloomustab vasaku vatsakese suurenemine ja s\u00fcstoolne d\u00fcsfunktsioon. DKM v\u00f5ib esineda aastaid as\u00fcmptomaatilisena. T\u00fcsistused tekivad tavaliselt haiguse hilisemas k\u00e4igus s\u00fcdamepuudulikkuse, r\u00fctmih\u00e4irete ja trombemboolilise haigusena.<\/p>\n

DKM avaldub tavaliselt 40-60 eluaasta vahel aga v\u00f5ib tekkida igas eas.<\/p>\n

Haigus v\u00f5ib olla omandatud, s\u00fcndroomne v\u00f5i mittes\u00fcndroomne. DKM p\u00e4randub enamasti autosoom-dominantsel teel aga esineb ka X-liitelist p\u00e4randumist.<\/p>","protected":false},"excerpt":{"rendered":"

Dilateeruva kardiom\u00fcopaatiaga seotud geenide sekveneerimine Geenid: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FLNC, GATAD1, JPH2, JUP, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, NKX2-5, OBSCN, PRDM16, PKP2, PLN, PSEN2, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, […]<\/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-20612","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t