{"id":14731,"date":"2016-03-03T08:45:25","date_gmt":"2016-03-03T08:45:25","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14731"},"modified":"2026-04-14T11:50:32","modified_gmt":"2026-04-14T08:50:32","slug":"perekondlik-aordi-aneurusm-dissektsioon-ja-seonduvad-sundroomid","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/perekondlik-aordi-aneurusm-dissektsioon-ja-seonduvad-sundroomid\/","title":{"rendered":"Perekondlik aordi aneur\u00fcsm, dissektsioon ja seonduvad s\u00fcndroomid"},"content":{"rendered":"

Perekondliku aordi aneur\u00fcsmi, dissektsiooni ja seonduvate s\u00fcndroomidega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, ACTA2, BGN, B3GALT6, B3GAT3, B4GALT7, CBS, CHST14, <\/span>COL12A1, COL1A1, COL1A2, COL3A1, COL4A5, COL5A1, <\/span>COL5A2, C1R, C1S, DSE, EFEMP2, ELN, FBLN5, FKBP14, <\/span>FLNA, FBN1, FBN2, FOXE3, GORAB, HCN4, LTBP4, LOX, <\/span>MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, <\/span>PRKG1,PYCR1, RIN2, SLC2A10, SLC39A13, SMAD2, SMAD3, <\/span>SMAD4,TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TNXB, ZNF469<\/span><\/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>\n6-8 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>\nFBN1, TGFBR2, TGFBR1<\/i><\/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 eristamaks mainitud grupi s\u00fcndroome<\/li>\n
  3. As\u00fcmptomaatiliste l\u00e4hisugulaste\u00a0testimine prognoosimaks haiguse avaldumist<\/li>\n
  4. S\u00fcnnieelne diagnostika,\u00a0kui perekondlik mutatsioon on teada<\/li>\n
  5. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Perekondlikule aordi aneur\u00fcsmile, dissektsioonile ja seonduvatele s\u00fcndroomidele <\/strong>on iseloomulik \u00fcleneva aordi laienemine, mis progresseerub aordi dissektsiooni harvem aordi rebendiga. Aordi laienemine ongi reeglina haiguse esimene ilming. Aordi dissektsioon on suhteliselt harva esinev \u00e4geda eluohtliku iseloomuga seisund, mille puhul verevool rebestab aordi seina sisekihi ja tungib seinakihtide vahele, neid \u00fcksteise k\u00fcljest eraldades. Antud seisund puudutab peamiselt \u00fclenevat aorti, kuid v\u00f5ib ette tulla ka alaneva rinnaaordi juures.<\/p>\n

    Rinnaaordi aneur\u00fcsmid v\u00f5ivad olla ka as\u00fcmptomaatilised. Aneur\u00fcsmid ja dissektsioonid v\u00f5ivad esineda isoleeritud kardiovaskulaars\u00fcsteemi h\u00e4iretena v\u00f5i olla seotud geneetiliste haigustega nagu Marfani s\u00fcndroom, Loeys-Dietz s\u00fcndroom, Ehlers-Danlos s\u00fcndroom jne.<\/p>\n

    Perekondlik aordi aneur\u00fcsm, dissektsioon ja seonduvad s\u00fcndroomid p\u00e4randuvad autosoom-dominantsetena. Kuni 19% patsientidel on esimese astme sugulane samuti rinnaaordi aneur\u00fcsmiga, mille t\u00f5ttu on l\u00e4hisugulaste testimine haiguse avaldumise prognoosiks v\u00e4ga oluline.
    \n<\/strong><\/p>","protected":false},"excerpt":{"rendered":"

    Perekondliku aordi aneur\u00fcsmi, dissektsiooni ja seonduvate s\u00fcndroomidega seotud geenide sekveneerimine Geenid: ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, ACTA2, BGN, B3GALT6, B3GAT3, B4GALT7, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, C1R, C1S, DSE, EFEMP2, ELN, FBLN5, FKBP14, FLNA, FBN1, FBN2, FOXE3, GORAB, HCN4, LTBP4, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1,PYCR1, RIN2, SLC2A10, […]<\/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-14731","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14731","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=14731"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14731\/revisions"}],"predecessor-version":[{"id":29531,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14731\/revisions\/29531"}],"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=14731"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}