{"id":14672,"date":"2016-02-22T09:21:59","date_gmt":"2016-02-22T09:21:59","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14672"},"modified":"2024-11-06T14:15:32","modified_gmt":"2024-11-06T12:15:32","slug":"perekondlik-huperkolesteroleemia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/perekondlik-huperkolesteroleemia\/","title":{"rendered":"Perekondlik h\u00fcperkolesteroleemia"},"content":{"rendered":"

Perekondliku h\u00fcperkolesteroleemiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Genes:<\/strong><\/td>\nABCG5, ABCG8, APOB, APOE, LIPA, LDLR, LDLRAP1, PCSK9<\/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>\nLDLR<\/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. Kandluse m\u00e4\u00e4ramine\u00a0teadaoleva mutatsiooni suhtes<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Perekondlikule h\u00fcperkolesteroleemiale\u00a0<\/strong>on omane k\u00f5rge LDL-kolesterooli tase,\u00a0<\/strong>mis p\u00f5hjustab aterosklerootiliste naastude\u00a0ladestumist\u00a0koronaararterites. Viimane omakorda suurendab\u00a0varajaste s\u00fcdame-veresoonkonna haiguste ja insuldi t\u00f5en\u00e4osust.\u00a0Kolesterool v\u00f5ib ladestuda nii k\u00e4te ja jalgade\u00a0k\u00f5\u00f5lustes, k\u00fc\u00fcnarnuki ja p\u00f5lvede juures\u00a0kui silmade \u00fcmbruses.<\/p>\n

    Heteros\u00fcgootset perekondlikku h\u00fcperkolesteroleemiat\u00a0seostatakse <\/span>heteros\u00fcgootsete haigusseoseliste muutustega LDLR<\/em>, APOB<\/em> ja PCSK9<\/em> geenides, haiguse esinemissagedus on ca<\/span>\u00a01 : 500.<\/p>\n

    Homos\u00fcgootne\u00a0perekondlik h\u00fcperkolesteroleemia\u00a0on oma esinemissageduselt palju haruldasem. Seda on\u00a0t\u00e4heldatud sagedusega\u00a01 : 1 000 000 \u00fcldpopulatsioonist. <\/span>Homos\u00fcgootset perekondlikku h\u00fcperkolesteroleemiat seostatakse kahealleelsete muutustega\u00a0LDLR<\/em>, LDLRAP1<\/em>, APOB<\/em> ja PCSK9<\/em> geenides.<\/p>","protected":false},"excerpt":{"rendered":"

    Perekondliku h\u00fcperkolesteroleemiaga seotud geenide sekveneerimine Genes: ABCG5, ABCG8, APOB, APOE, LIPA, LDLR, LDLRAP1, PCSK9 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 (lilla korgiga katsuti) 1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i […]<\/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-14672","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14672","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=14672"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14672\/revisions"}],"predecessor-version":[{"id":29309,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14672\/revisions\/29309"}],"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=14672"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}