{"id":14906,"date":"2016-03-16T13:31:33","date_gmt":"2016-03-16T13:31:33","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14906"},"modified":"2024-06-06T18:37:03","modified_gmt":"2024-06-06T15:37:03","slug":"spastiline-parapleegia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/spastiline-parapleegia\/","title":{"rendered":"P\u00e4rilik spastiline parapleegia"},"content":{"rendered":"

P\u00e4riliku spastilise parapleegiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nALDH18A1, ALDH3A2, AMACR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ATAD3A, ATP2B4, ATL1, B4GALNT1, BICD2, BSCL2, BTD, CPT1C, CYP27A1, CYP2U1, CYP7B1, C19orf12, DDHD1, DDHD2, ENTPD1,ERLIN1, ERLIN2, FA2H, GAD1, GBA2, GBE1, GFAP, GJC2, HSPD1, IBA57, KIF1A, KIF1C, KIF5A, KLC2, KLC4, L1CAM, MARS1, MTHFR, MTRFR, NIPA1, NT5C2, PAH, PEX1, PGAP1, PLA2G6, PLP1, PNPLA6, REEP1, REEP2, RTN2, SLC16A2, SLC25A15, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, USP8, ZFYVE26, TECPR2, TFG, TH, TUBB4A, UBAP1, WASHC5, WDR48, VPS37A<\/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\/duplikatsionide anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nATL1, SPAST, SPG7, REEP1<\/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 \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<\/li>\n
  3. Kandluse m\u00e4\u00e4ramine\u00a0teadaoleva mutatsiooni suhtes<\/li>\n
  4. S\u00fcnnieelne diagnostika\u00a0teadaoleva perekondliku mutatsiooni suhtes<\/li>\n
  5. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    P\u00e4rilik Spastiline parapleegia<\/strong>\u00a0(HSP)<\/strong>\u00a0<\/b>on grupp kliiniliselt ja geneetiliselt heterogeenseid haigusi, millele on omane\u00a0progresseeruv alaj\u00e4semete spastilisus ja n\u00f5rkus.<\/p>\n

    HSP v\u00f5ib esineda nii lihtsama vormina, kui haigusest on haaratud vaid\u00a0l\u00fclisammas, kui ka komplekssena. Viimaseks klassifitseeritakse haigust juhul, kui esinevad ka teised\u00a0neuroloogilised leiud, nagu ataksia, krambid, intellektipuue, dementsus, am\u00fcotroofia, ekstrap\u00fcramidaalh\u00e4ired\u00a0v\u00f5i perifeerne neuropaatia.<\/p>\n

    HSP v\u00f5ib olla nii\u00a0autosoom-dominantse, autosoom-retsessiivse, X-liitelise retsessiivse\u00a0v\u00f5i emapoolse (mitokondriaalne DNA) p\u00e4randumisega.<\/p>\n

    P\u00e4riliku spastilise parapleegia esinemissagedus on hinnanguliselt 2 – 6 : 100 000.<\/p>","protected":false},"excerpt":{"rendered":"

    P\u00e4riliku spastilise parapleegiaga seotud geenide sekveneerimine Geenid: ALDH18A1, ALDH3A2, AMACR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ATAD3A, ATP2B4, ATL1, B4GALNT1, BICD2, BSCL2, BTD, CPT1C, CYP27A1, CYP2U1, CYP7B1, C19orf12, DDHD1, DDHD2, ENTPD1,ERLIN1, ERLIN2, FA2H, GAD1, GBA2, GBE1, GFAP, GJC2, HSPD1, IBA57, KIF1A, KIF1C, KIF5A, KLC2, KLC4, L1CAM, MARS1, MTHFR, MTRFR, NIPA1, NT5C2, PAH, PEX1, PGAP1, […]<\/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-14906","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14906","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=14906"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14906\/revisions"}],"predecessor-version":[{"id":29231,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14906\/revisions\/29231"}],"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=14906"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}