{"id":19239,"date":"2017-03-27T13:32:28","date_gmt":"2017-03-27T12:32:28","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=19239"},"modified":"2023-08-30T17:00:18","modified_gmt":"2023-08-30T14:00:18","slug":"aju-anomaaliad","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dysmorphology-testid\/aju-malformatsioonid\/","title":{"rendered":"Aju malformatsioonid"},"content":{"rendered":"

Aju malformatsioonidega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nACTB, ACTG1, ADGRG1, AHI1, AKT1, AKT3, AMPD2,\u00a0AMT, ANKLE2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, ARFGEF2, ARL13B, ARX, ASNS, ASPM, ATP6V0A2, ATR, ATRX, B3GALNT2<\/strong>, B4GAT1, B9D1, B9D2, BICD2, C2CD3<\/strong>, C5orf42(CPLANE1), CASK, CC2D2A, CCDC22, CCND2, CDC45, CDC6, CDK5RAP2, CDK6, CDON, CDT1, CENPE, CENPF, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CHD7, CHMP1A, CIT, CLP1, COL18A1, COL3A1, COPB1, CREBBP, CSPP1, CTNNA2, CUL4B, DAG1<\/strong>, DCX, DDX3X, DHCR24, DHCR7, DISP1, DLAT, DLD, DLL1, DNA2, DYNC1H1, DYRK1A, EFTUD2<\/strong>, EML1, EOMES, EP300, ERCC6, ERMARD, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, EZH2, FAT4, FBXO11, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FOXP2, GCDH<\/strong>, GCSH, GLDC, GMNN, GMPPB, GPSM2, GRIN1, GRIN2B, GSX2, HDAC8, IER3IP1<\/strong>, IFT172, INPP5E, ISPD(CRPPA), KIF11<\/strong>, KIF14, KIFBP, KIF2A, KIF5C, KIF7, KIFBP, KMT2A, KMT2D, KNL1, LAGE3<\/strong>, LAMA2, LAMB1, LAMC3, LARGE1, LGI1, MCM5<\/strong>, MCPH1, MECP2, MFSD2A, MKS1, MTOR, NACC1<\/strong>, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NEDD4L, NHEJ1, NIN, NPHP1*, NSMCE2, NUP107, NUP133, NUP37, OCLN<\/strong>, OFD1, OPHN1, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1<\/strong>, PCDH12, PCNT, PDE6D, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHC1, PHGDH, PI4KA, PIEZO2, PIK3CA, PIK3R2, PLK4, PMM2, PNKP, POC1B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP1R12A, PQBP1, PSAT1, PSPH, PTEN, RAB18<\/strong>, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RELN, RPGRIP1L, RTTN, RXYLT1(TMEM5), SASS6<\/strong>, SEC23B, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SLC25A46, SLC9A6, SMC1A, SMC3, SNAP29, SRD5A3, SRPX2, STAG2, STAMBP, STIL, TBC1D20<\/strong>, TCF4, TCTN1, TCTN2, TCTN3, TGIF1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMX2, TP53RK, TPRKB, TRAIP, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, VLDLR<\/strong>, VRK1, WASHC5<\/strong>, WDFY3, WDR4, WDR62, WDR73, ZEB2<\/strong>, ZIC2, ZNF335, ZNF423<\/em><\/p>\n

* – 250kb deletsioon ei ole heteros\u00fcgootses olekus antud testiga m\u00e4\u00e4ratav<\/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

4 \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":"

Aju malformatsioonidega seotud geenide sekveneerimine Geenid: ACTB, ACTG1, ADGRG1, AHI1, AKT1, AKT3, AMPD2,\u00a0AMT, ANKLE2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, ARFGEF2, ARL13B, ARX, ASNS, ASPM, ATP6V0A2, ATR, ATRX, B3GALNT2, B4GAT1, B9D1, B9D2, BICD2, C2CD3, C5orf42(CPLANE1), CASK, CC2D2A, CCDC22, CCND2, CDC45, CDC6, CDK5RAP2, CDK6, CDON, CDT1, CENPE, CENPF, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CHD7, CHMP1A, […]<\/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-19239","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19239","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=19239"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19239\/revisions"}],"predecessor-version":[{"id":29006,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19239\/revisions\/29006"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19236"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=19239"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}