{"id":20780,"date":"2017-10-31T10:38:56","date_gmt":"2017-10-31T08:38:56","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=20780"},"modified":"2024-03-24T15:08:42","modified_gmt":"2024-03-24T13:08:42","slug":"metaboolne-muopaatia-ja-rabdomuoluus","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-metabolic-disorders-testid\/metaboolne-muopaatia-ja-rabdomuoluus\/","title":{"rendered":"Metaboolne m\u00fcopaatia ja rabdom\u00fcol\u00fc\u00fcs"},"content":{"rendered":"

Metaboolse m\u00fcopaatia ja rabdom\u00fcol\u00fc\u00fcsiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, CAV3, CPT2, DGUOK, DMD, DYSF, EPM2A, ENO3, ETFA, ETFB, ETFDH, FDX1L (FDX2), FLAD1, FKRP, GAA, GBA1 (GBA), GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, NHLRC1 (EPM2A), OPA1, OPA3, PHKA1, PHKB, PFKM, PGAM2, PGK1, PGM1, PNPLA2, POLG, POLG2, PRKAG2, PYGM, RBCK1, RRM2B, RYR1, SCN4A, SIL1, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, SUCLA2, TAZ, TK2, TSEN54, TWNK, TANGO2, TYMP<\/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>","protected":false},"excerpt":{"rendered":"

Metaboolse m\u00fcopaatia ja rabdom\u00fcol\u00fc\u00fcsiga seotud geenide sekveneerimine Geen: ABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, CAV3, CPT2, DGUOK, DMD, DYSF, EPM2A, ENO3, ETFA, ETFB, ETFDH, FDX1L (FDX2), FLAD1, FKRP, GAA, GBA1 (GBA), GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, NHLRC1 (EPM2A), OPA1, OPA3, PHKA1, PHKB, PFKM, PGAM2, PGK1, PGM1, PNPLA2, POLG, POLG2, PRKAG2, […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":20741,"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-20780","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t