{"id":17719,"date":"2016-08-16T14:28:08","date_gmt":"2016-08-16T13:28:08","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=17719"},"modified":"2022-03-25T10:41:01","modified_gmt":"2022-03-25T08:41:01","slug":"epilepsia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/epilepsia\/","title":{"rendered":"Epilepsia"},"content":{"rendered":"

Epilepsiaga\u00a0seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid
\n(kodeeriv ala):<\/strong><\/td>\n		AARS1, ABAT, ACTL6B, ACY1, ADAM22, ADAR, ADSL, ALDH5A1, ALDH7A1, ALG3, ALG13, AMT, AP3B2, ARHGEF9, ARHGEF15, ARX, ASAH1, ATP1A2, ATP1A3, ATP6AP2, ATP6V1A, ATRX, BRAT1, CACNA1A, CACNA1D, CACNA2D2, CACNA1E, CACNA1H, CACNB4, CASK, CDC42, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLN3, CLN8, CNPY3, CNTN2, CNTNAP2, C12orf57, CPA6, CRH, CSTB, CTSF, CYFIP2, DENND5A, DEPDC5, DHFR, D2HGDH, DNAJC5, DNM1, DNM1L, DOCK7, DYRK1A, EEF1A2, EFHC1, EPM2A, ETHE1, FGF12, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HNRNPU, HUWE1, IER3IP1, ITPA, IQSEC2, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KIF1A, KIF5C, LGI1, LIAS, MBD5, MCCC1, MDH2, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTHFR, MTOR, NACC1, NECAP1, NEUROD2, NEXMIF, NGLY1, NHLRC1, NOL3, NPRL2, NR2F1, NRXN1, PCDH19, PHACTR1, PIK3R2, PIGA, PIGB, PIGN, PIGO, PIGP, PIGQ, PIGT, PLCB1, PLPBP, PNKP, PNPO, POLG, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRRT2, PURA, QARS, RBFOX1, RBFOX3, RELN, RNASEH2B, ROGDI, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERAC1, SERPINI1, SIK1, SLC1A2, SLC12A5, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNAP25, SNIP1, SNX27, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TBCD, TBC1D24, TBCE, TBCK, TCF4, TPP1, TRAK1, TSC1, TSC2, TTC19, TUBB3, UBA5, UBE3A, WASF1, WDR45, WWOX, ZDHHC9, ZEB2<\/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

4 \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>\nCHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3, NHLRC1, PCDH19, SCN1A, SLC2A1, STXBP1<\/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

2,5 \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. Patsiendi pereliikmete testimine teadaoleva perekondliku mutatsiooni suhtes<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n
  4. S\u00fcnnieelne diagnostika teadaoleva perekondliku mutatsiooni suhtes<\/li>\n<\/ol>\n

    Epilepsia<\/strong> on kliiniliselt ja geneetiliselt heterogeenne haiguste grupp, millele on iseloomulik epileptiliste hoogude ja muude neuroloogiliste s\u00fcmptomite esinemine. Epilepsia v\u00f5ib tekkida insuldi, ajukasvajate, peatraumade, aju struktuursete muutuste, neuroinfektsioonide ja geneetiliste s\u00fcndroomide tagaj\u00e4rjel.<\/p>\n

    Epilepsiad v\u00f5ib jagada kolme gruppi: geneetilised generaliseerunud<\/strong>, fokaalsed<\/strong> ja entsefalopaatilised epilepsiad<\/strong>. Lisaks on igas grupis spetsiifilised haigust\u00fc\u00fcbid. Geneetilised generaliseerunud epilepsia s\u00fcndroomid h\u00f5lmavad muuhulgas juveniilset m\u00fcokloonilist epilepsiat ja lapseea absaansepilepsiat.\u00a0Fokaalse epilepsia s\u00fcndroomide hulka kuuluvad temporaalsagara epilepsia, autosoom-dominantne uneaegne frontaalsagara epilepsia ja kuulmishallutsinatsioonidega autosoom-dominantne epilepsia.\u00a0Epileptilised entsefalopaatiad on raskekujulised, varajase avaldumisega haigusseisundid, mida iseloomustavad kestva epileptilise aktiivsusega seotud refraktaarsed hood ja arenguh\u00e4ired ning \u00fcldine halb prognoos.<\/p>\n

    Epilepsia on sageli kaasuvaks haiguseks vaimse mahaj\u00e4\u00e4muse, autismi v\u00f5i skisofreenia puhul.<\/p>\n

    Geneetilised faktorid on epilepsia tekkes olulised. Enamik epilepsiaga seostatud geene on seotud ioonkanalite patoloogiaga.<\/p>","protected":false},"excerpt":{"rendered":"

    Epilepsiaga\u00a0seotud geenide sekveneerimine Geenid (kodeeriv ala): AARS1, ABAT, ACTL6B, ACY1, ADAM22, ADAR, ADSL, ALDH5A1, ALDH7A1, ALG3, ALG13, AMT, AP3B2, ARHGEF9, ARHGEF15, ARX, ASAH1, ATP1A2, ATP1A3, ATP6AP2, ATP6V1A, ATRX, BRAT1, CACNA1A, CACNA1D, CACNA2D2, CACNA1E, CACNA1H, CACNB4, CASK, CDC42, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLN3, CLN8, CNPY3, CNTN2, CNTNAP2, C12orf57, CPA6, CRH, CSTB, CTSF, […]<\/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-17719","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/17719","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=17719"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/17719\/revisions"}],"predecessor-version":[{"id":28186,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/17719\/revisions\/28186"}],"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=17719"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}