{"id":14789,"date":"2016-03-09T13:27:24","date_gmt":"2016-03-09T13:27:24","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14789"},"modified":"2024-06-06T17:49:47","modified_gmt":"2024-06-06T14:49:47","slug":"mitokondriaalsed-haigused","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/mitokondriaalsed-haigused\/","title":{"rendered":"Mitokondriaalsed haigused"},"content":{"rendered":"

Mitokondriaalse genoomi sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine
\nHeteroplasmiat alla 20% ei ole v\u00f5imalik sekveneerimise teel m\u00e4\u00e4rata<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n2-4 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.<\/p>\n

50-70 mg koheselt k\u00fclmutatud kude<\/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

Tuumageenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nAARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOO, APTX, ATIC, ATP5F1A, ATP5F1E, ATP7B, ATPAF2, ATXN2, AUH, BAX<\/strong>, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C12orf65<\/strong>, C19orf12, CA5A, CARS2, CASP8, CAT, CAVIN1, CEL, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA8 (APOPT1), COASY, COMT, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6A2, COX6B1, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH<\/strong>, DARS2, DBT, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNAJC3, DNM1L, EARS2<\/strong>, ECHS1, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH<\/strong>, FARS2, FASTKD2, FBP1, FBXL4, FDX2 (FDX1L), FECH, FH, FKBP10, FLAD1, FOXRED1, FTH1, FXN, G6PC<\/strong>, GAMT, GARS1 (GARS), GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, GYS2, HADH<\/strong>, HADHA, HAMP, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2<\/strong>, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS1<\/strong>, KIF1B, KRT5, L2HGDH<\/strong>, LAMP2, LARS1, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MAOA<\/strong>, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MICU1, MIP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSRB3, MTFMT, MTO1, MTPAP, MTRR, NADK2<\/strong>, NAGS, NARS2, NBAS,NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NNT, NR2F1, NTHL1, NUBPL, OAT<\/strong>, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, P4HB<\/strong>, PAM16, PANK2, PARK7, PARS2, PC, PCCA, PCCB, PCK2, PDE12, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO, PNPT1, POLG, POLG2, PPOX, PRODH, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR<\/strong>, RARS2<\/strong>, RDH11, REEP1, RMND1, RNASEH1, RNASEL, RPIA, RPL35A, RPS14, RRM2B, SARS2<\/strong>, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SECISBP2, SERAC1, SETX, SFXN4, SLC16A1, SLC19A3, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC6A8, SLC9A6, SNAP29, SOD1, SOD2, SPAST, SPG7, SPR, SPTLC2, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1<\/strong>, TARS2, TAZ, TCIRG1, TFAM, TFR2, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TMLHE, TPI1, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TWNK, TYMP, UNG<\/strong>, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2<\/strong>, WDR81<\/strong>, WFS1, XPNPEP3, YARS2<\/strong><\/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

MELAS s\u00fcndroomiga seotud mutatsioonanal\u00fc\u00fcs MT-TL1<\/em> geenis<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nMT-TL1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Marker:<\/strong><\/td>\n1 (m.3243A>G)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nSanger sekveneerimine<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n1-2\u00a0n\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

120 ng 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

ACADS<\/span><\/em> geeni sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nACADS<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (Sanger)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n2-4 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

ACADVL<\/span><\/em> geeni sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nACADVL<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (NGS)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n2-4 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
Metoodika:<\/strong><\/td>\nDGUOK, MPV17, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK<\/em><\/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.<\/p>\n

50-70 mg koheselt k\u00fclmutatud kude<\/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. Haiguse diagnoosimine, kui patsiendi fenot\u00fc\u00fcp on iseloomulik mitokondriaalsetele haigustele<\/li>\n
  2. Diagnoosi m\u00e4\u00e4ramine, kui patsiendi pereanamnees viitab mitokondriaalsetele haigustele<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Mitokondriaalsed haigused<\/strong> on geneetliliselt ja kliiniliselt heterogeenne grupp haigusi, mis on tingitud mitokondriaalse hingamisahela defektidest. \u00a0Mitokondriaalsed haigused on p\u00f5hjustatud mutatsioonidest\u00a0mitokondriaalse DNA (mtDNA) v\u00f5i tuuma\u00a0DNA geenides. Tuuma\u00a0DNA geenides olevad mutatsioonid v\u00f5ivad p\u00e4randuda autosoom-retsessiivsel v\u00f5i autosoom-dominantsel teel, mutatsioonid mtDNA-s p\u00e4randuvad vaid emaliini pidi. Heteroplasmia korral p\u00e4randuvad\u00a0mtDNA mutatsioonid erinevates rakkudes\/kudedes\u00a0ebav\u00f5rdselt ja nende kliiniline avaldumine j\u00e4rglastel v\u00f5ib olla v\u00e4ga varieeruv.<\/p>\n

    Mitokondriaalse haiguse s\u00fcmptomid v\u00f5ivad avalduda igas eas. Haigusest v\u00f5ib olla haaratud \u00fcks organ (Leberi p\u00e4rilik optiline atroofia, LHON) v\u00f5i mitmed organs\u00fcsteemid (m\u00fcoklooniline epilepsia koos punaste narmendavate lihaskiududega, MERRF). Mitokondriaalsete haiguste levinuimad s\u00fcmptomid on lihasn\u00f5rkus, liikumisraskused ja taskaaluh\u00e4ired, kasvupeetus, kurtus, n\u00e4gemise halvenemine, krambid, kardiom\u00fcopaatia, diabeet, raseduse katkemised.<\/p>\n

    Mitokondriaalsete haiguste esinemissageduseks on 1 : 8500, kuid need haigused\u00a0v\u00f5ivad olla suuresti\u00a0 aladiagnoositud.<\/p>\n

    Proovimaterjaliks soovitame:<\/strong><\/p>\n

      \n
    1. Verest eraldatud DNA (tuuma DNA muutuste ja m\u00f5nede mtDNA muutuste korral)<\/li>\n
    2. Lihasest\u00a0eraldatud DNA (mtDNA muutuste korral, kuna haigusseoselisi mtDNA muutusi ei pruugi verest eraldatud DNA puhul tuvastada)<\/li>\n<\/ol>","protected":false},"excerpt":{"rendered":"

      Mitokondriaalse genoomi sekveneerimine Metoodika: Kodeeriva piirkonna sekveneerimine Heteroplasmiat alla 20% ei ole v\u00f5imalik sekveneerimise teel m\u00e4\u00e4rata Testi valmimisaeg: 2-4 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 100-250 ng\/\u00b5l DNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab […]<\/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-14789","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14789","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=14789"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14789\/revisions"}],"predecessor-version":[{"id":29217,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14789\/revisions\/29217"}],"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=14789"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}