{"id":15179,"date":"2016-03-28T10:13:08","date_gmt":"2016-03-28T09:13:08","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=15179"},"modified":"2022-03-25T10:47:37","modified_gmt":"2022-03-25T08:47:37","slug":"frontotemporaalne-dementsus","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/frontotemporaalne-dementsus\/","title":{"rendered":"Frontotemporaalne dementsus"},"content":{"rendered":"

Frontotemporaalse dementsusega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCA7, APOE, APP, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SORL1, TARDBP, TBK1, TREM2, TUBA4A, UBE3A, UBQLN2, VCP
\n<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Mittekodeeriv ala:<\/strong><\/td>\nMittekodeerivad geneetilised variandid<\/a><\/strong><\/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>\nCRHR1, GRN, MAPT<\/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. Diferentsiaaldiagnostika eristamaks mainitud grupi s\u00fcndroome<\/li>\n
  3. As\u00fcmptomaatiliste l\u00e4hisugulaste testimine prognoosimaks haiguse avaldumist<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Frontotemporaalne dementsus\u00a0(FTD)<\/strong> on degeneratiivne haigus, millele on iseloomulik progressiivne neuronite kadu aju temporaal- ja\u00a0otsmikusagaras. Kliiniliselt v\u00f5ivad esineda k\u00e4itumuslikud muutused, k\u00f5netegevuse h\u00e4ire, afaasia, m\u00e4rke\u00a0ekstrap\u00fcramidaalh\u00e4iretest, j\u00e4ikus, aeglus, supranukleaarne halvatus, sakaadiliste silmaliigutuste h\u00e4ired\u00a0ja\u00a0mutism.<\/p>\n

    FTD ilmneb reeglina\u00a040. ja 60. eluaasta vahel, kuid ei ole v\u00e4listatud ka haiguse avaldumine\u00a0varasemal v\u00f5i hilisemal perioodil. Enamikul diagnoositud patsientidest on ka sarnase diagnoosiga vanem. FTD p\u00e4randub\u00a0autosoom-dominantsel\u00a0<\/strong>teel.<\/p>","protected":false},"excerpt":{"rendered":"

    Frontotemporaalse dementsusega seotud geenide sekveneerimine Geenid: ABCA7, APOE, APP, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SORL1, TARDBP, TBK1, TREM2, TUBA4A, UBE3A, UBQLN2, VCP Mittekodeeriv ala: Mittekodeerivad geneetilised variandid 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 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14761,"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-15179","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/15179","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=15179"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/15179\/revisions"}],"predecessor-version":[{"id":28188,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/15179\/revisions\/28188"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14761"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=15179"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}