{"id":21170,"date":"2018-01-17T15:00:11","date_gmt":"2018-01-17T13:00:11","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=21170"},"modified":"2026-06-05T14:19:53","modified_gmt":"2026-06-05T11:19:53","slug":"leukodustroofia-ja-leukoentsefalopaatia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/leukodustroofia-ja-leukoentsefalopaatia\/","title":{"rendered":"Leukod\u00fcstroofia ja leukoentsefalopaatia"},"content":{"rendered":"

Leukod\u00fcstroofia ja\u00a0leukoentsefalopaatiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, CSF1R, CYP27A1, DARS2, D2HGDH, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, GM2A, HEPACAM, HSPD1, HTRA1, L2HGDH, LMNB1, MAN2B1, MLC1, MLYCD, MTHFR, NOTCH3, NPC1, NPC2, PEX10, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC6A8, SOX10, SUMF1, TREX1, TUBB4A<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (NGS), Sanger sekveneerimine.
\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-
\nmaterjalile:<\/strong><\/td>\n		2-4 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
\nA260\/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>\nABCD1, ASPA, D2HGDH, L2HGDH, LMNB1, MLC1, MLYCD, NOTCH3, PLP1, SLC6A8<\/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-
\nmaterjalile:<\/strong><\/td>\n		2-4 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
\nA260\/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>","protected":false},"excerpt":{"rendered":"

Leukod\u00fcstroofia ja\u00a0leukoentsefalopaatiaga seotud geenide sekveneerimine Geenid: ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, CSF1R, CYP27A1, DARS2, D2HGDH, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, GM2A, HEPACAM, HSPD1, HTRA1, L2HGDH, LMNB1, MAN2B1, MLC1, MLYCD, MTHFR, NOTCH3, NPC1, NPC2, PEX10, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC6A8, SOX10, SUMF1, TREX1, […]<\/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-21170","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\t\t