{"id":19248,"date":"2017-03-27T13:45:13","date_gmt":"2017-03-27T12:45:13","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=19248"},"modified":"2023-01-04T17:14:52","modified_gmt":"2023-01-04T15:14:52","slug":"mikrotsefaalia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dysmorphology-testid\/mikrotsefaalia\/","title":{"rendered":"Mikrotsefaalia"},"content":{"rendered":"

Mikrotsefaaliaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nANKLE2, AP4M1, ASNS, ASPM, ATM, ATR, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHD7, CIT, COPB1, CREBBP, CTNNA2, DHCR7, DHTKD1, DNA2, DONSON, DYRK1A, EFTUD2, EP300, ERCC6, EXOSC3. FBXO11, GMNN, GSX2, HDAC8, IER3IP1, KIF11, KIF14, KIF2A, KIF5C, KIFBP, KMT2A, KNL1, LAGE3, LIG4, MCM5, MCPH1, MFSD2A, NACC1, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NHEJ1, NIN, NSMCE2, NUP107, NUP133, NUP37, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1, PCDH12, PCNT, PHC1, PHGDH, PLK4, PNKP, POMT1, PSAT1, PSPH, RAD50, RBBP8, RTTN, SASS6, SLC25A19, SLC9A6, STAMBP, STIL, TP53RK, TPRKB, TRAIP, TRAPPC9, TRMT10A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, WDFY3, WDR4, WDR62, WDR73, XRCC4, ZEB2, ZNF335<\/em><\/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-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1\u00a0\u00b5g\u00a0DNA-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 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><\/span><\/strong> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>","protected":false},"excerpt":{"rendered":"

Mikrotsefaaliaga seotud geenide sekveneerimine Geenid: ANKLE2, AP4M1, ASNS, ASPM, ATM, ATR, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHD7, CIT, COPB1, CREBBP, CTNNA2, DHCR7, DHTKD1, DNA2, DONSON, DYRK1A, EFTUD2, EP300, ERCC6, EXOSC3. FBXO11, GMNN, GSX2, HDAC8, IER3IP1, KIF11, KIF14, KIF2A, KIF5C, KIFBP, KMT2A, KNL1, LAGE3, LIG4, MCM5, MCPH1, MFSD2A, NACC1, NBN, […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":19236,"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-19248","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t