{"id":20631,"date":"2017-10-16T10:34:51","date_gmt":"2017-10-16T07:34:51","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=20631"},"modified":"2020-06-15T16:44:46","modified_gmt":"2020-06-15T13:44:46","slug":"hupertriglutserideemia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/hupertriglutserideemia\/","title":{"rendered":"H\u00fcpertrigl\u00fctserideemia"},"content":{"rendered":"

H\u00fcpertrigl\u00fctserideemiaga seotud
\ngeenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nAPOA5, APOC2, GPD1, GPIHBP1, LMF1, LPL<\/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

N\u00e4idustused geenitesti tegemiseks<\/strong>:
\n1. Kliinilise diagnoosi kinnitamine
\n2. Pereliikmete testimine
\n3. Geneetiline n\u00f5ustamine<\/p>\n

H\u00fcpertrigl\u00fctserideemiale<\/strong> (HTG) on iseloomulik k\u00f5rge trigl\u00fctseriidide<\/strong> (TG) tase, mis on tingitud v\u00e4ga v\u00e4ikese tihedusega lipoproteiinide (VLDL) \u00fcletootmisest ja v\u00e4henenud eemaldamisest. HTG klassifitseeritakse primaarseks, kui tegemist on p\u00e4riliku seisundiga, p\u00f5hjuseks geneetilised defektid TG s\u00fcnteesis v\u00f5i metabolismis. Sekundaarse HTG puhul on haiguse kliiniliseks avaldumiseks vajalik lisafaktorite olemasolu, tavaliselt ravile halvasti alluv diabeet, alkoholi liigtarbimine, rasvumine ja metaboolne s\u00fcndroom.<\/p>\n

Primaarne HTG on seotud s\u00fcdame-veresoonkonna haiguste<\/strong> riskiga, rasvumise, diabeedi, h\u00fcpertensiooni ja h\u00fcperurikeemiaga<\/strong>.<\/p>\n

Haigust loetakse raskekujuliseks, kui plasma TG kontsentratsioon on >11.2 mmol\/L. T\u00fc\u00fcpiliseks s\u00fcmptomiks on korduv, tugev k\u00f5huvalu, patsiendil v\u00f5ib tekkida \u00e4ge pankreatiit.<\/p>","protected":false},"excerpt":{"rendered":"

H\u00fcpertrigl\u00fctserideemiaga seotud geenide sekveneerimine Geenid: APOA5, APOC2, GPD1, GPIHBP1, LMF1, LPL 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 steriilses vees, kontsentratsiooniga […]<\/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-20631","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20631","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=20631"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20631\/revisions"}],"predecessor-version":[{"id":26009,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20631\/revisions\/26009"}],"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=20631"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}