{"id":14829,"date":"2016-03-11T08:11:38","date_gmt":"2016-03-11T08:11:38","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14829"},"modified":"2023-01-09T12:06:02","modified_gmt":"2023-01-09T10:06:02","slug":"charcot-marie-toothi-haigus","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/charcot-marie-toothi-haigus\/","title":{"rendered":"Charcot-Marie-Toothi haigus"},"content":{"rendered":"

Charcot-Marie-Toothi haigusega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nAARS1, ABHD12, AIFM1, ARHGEF10, ARSA, ATP1A1, B4GALNT1, BSCL2, CACNA1S, C12orf65, COX6A1, CLCN1, CPT2, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GBA2, GBE1, GARS1, GDAP1, GJB1, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS1, KCNJ2, KIF1A, KIF5A, KIF1B, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NGF, NTRK1, PDK3, PLEKHG5, PMP22, POLG, PPOX, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN4A, SCN9A, SCN10A, SCN11A, SEPTIN9, SETX, SH3TC2, SLC5A7, SLC52A1, SLC52A2, SLC52A3, SORD, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTPA, TTR, TYMP, VCP, WARS1, WNK1, YARS1<\/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 keskkonna temperatuuril v\u00f5i k\u00fclmutatuna. \u00a0A260\/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>\nEGR2, GARS1, GDAP1, GJB1, HSPB1, HSBP8, KIF1B, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX, RAB7A, SBF2, SH3TC2, SPTLC1<\/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 keskkonna temperatuuril 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\u00a0l\u00e4hisugulastel<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Charcot-Marie-Toothi haigus<\/strong>\u00a0(CMT)<\/strong>\u00a0ehk Charcot-Marie-Toothi neuropaatia\u00a0h\u00f5lmab endas heterogeenset haiguste gruppi, millele on omane distaalsete lihaste n\u00f5rkus\u00a0ja\u00a0atroofia koos sensoorsete h\u00e4iretega jalgades ja\/v\u00f5i k\u00e4tes. Esimesed s\u00fcmptomid on harilikult jala deformatsioonid, nagu\u00a0k\u00f5rged tallav\u00f5lvid\u00a0ja\u00a0haamervarbad ning\u00a0jalgade alaosa iseloomulik kuju. Haiguse progresseerudes v\u00f5ib k\u00e4tes esineda n\u00f5rkust ja lihaste atroofiat. S\u00fcmptomite hulka v\u00f5ivad kuuluda ka kurtus ja skolioos.<\/p>\n

    Charcot-Marie-Tooth p\u00e4riliku\u00a0neuropaatia esinemissagedus on hinnanguliselt\u00a01 : 2500.<\/p>\n

    Kliinilise pildi ja muteerunud geenide alusel jagatakse CMT erinevateks t\u00fc\u00fcpideks ja alat\u00fc\u00fcpideks. Enamlevinud vorm on Charcot-Marie-Tooth t\u00fc\u00fcp 1A, <\/strong>mida p\u00f5hjustavad kas duplikatsioonid v\u00f5i mutatsioonid PMP22<\/em> geenis.<\/p>\n

    CMT neuropaatia p\u00e4randub kas autosoom-dominantsel,\u00a0autosoom-retsessiivsel v\u00f5i X-liitelisel teel.<\/p>","protected":false},"excerpt":{"rendered":"

    Charcot-Marie-Toothi haigusega seotud geenide sekveneerimine Geenid: AARS1, ABHD12, AIFM1, ARHGEF10, ARSA, ATP1A1, B4GALNT1, BSCL2, CACNA1S, C12orf65, COX6A1, CLCN1, CPT2, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GBA2, GBE1, GARS1, GDAP1, GJB1, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS1, KCNJ2, KIF1A, KIF5A, KIF1B, LITAF, LMNA, LRSAM1, […]<\/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-14829","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14829","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=14829"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14829\/revisions"}],"predecessor-version":[{"id":28637,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14829\/revisions\/28637"}],"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=14829"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}