Тест 49.
Епилепсия и епилептични синдроми- разширен панел
Мутации в 1089 гени асоциирани с епилепсия и епилептични синдроми
AAAS, AARS, AARS2, AASS, ABAT, ABCA2, ABCC8, ABCD1, ACADM, ACADS, ACADSB, ACO2, ACOX1, ACSF3, ACTB, ACTG1, ACTL6B, ACVR1, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADCK3, ADGRG1, ADK, ADNP, ADPRHL2, ADRA2B, ADSL, AFF3, AFG3L2, AGA, AGTR2, AHI1, AIFM1, AIMP1, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG9, ALKBH8, ALMS1, ALPL, AMACR, AMER1, AMPD2, AMT, ANKRD11, AP1G1, AP1S2, AP2M1, AP3B2, AP3D1, AP4E1, APC2, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1A, ARID1B, ARL13B, ARNT2, ARSA, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASTN1, ASXL1, ATAD1, ATIC, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP5A1, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATRX, ATXN10, AUH, AUTS2, AVPR2, B3GALNT2, B3GNT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BOLA3, BRAF, BRAT1, BRPF1, BSCL2, BTD, BUB1B, C12orf57, C5ORF42, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D2, CACNB4, CAD, CALM2, CAMTA1, CARD9, CARS2, CASK, CASQ2, CASR, CAV3, CBS, CC2D2A, CCBE1, CCDC186, CCDC88A, CCDC88C, CCM2, CDC42BPB, CDK19, CDKL5, CENPE, CENPJ, CEP164, CEP290, CEP41, CEP85L, CERS1, CHD2, CHD5, CHD8, CHKB, CHN1, CHRDL1, CHRM1, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN1, CLCN2, CLCN3, CLCN4, CLDN16, CLIC2, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COA5, COG4, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLGALT1, COQ2, COQ4, COQ6, COQ9, CORO1A, COX10, COX14, COX15, COX20, COX6B1, COX8A, CPA6, CPLX1, CPS1, CPT2, CRADD, CRB2, CREBBP, CRH, CRLF1, CRPPA, CSNK1G1, CSNK2B, CSPP1, CSTB, CTC1, CTH, CTNNA2, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX2, CYFIP2, CYP27A1, CYP27B1, D2HGDH, DALRD3, DBT, DCX, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHTKD1, DHX16, DHX30, DIAPH1, DKC1, DLG3, DLL1, DMBX1, DMD, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOCK8, DOLK, DONSON, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, EBP, ECM1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2A, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELOVL4, EMC10, EML1, EMX2, EPG5, EPM2A, ERCC6, ERLIN2, ERMARD, ETHE1, EXOC7, EXOSC3, EXT2, F2, FA2H, FADD, FAM111A, FAM50A, FAR1, FARS2, FASN, FASTKD2, FAT4, FBXL4, FCSK, FDFT1, FGD1, FGF12, FGF13, FGFR2, FGFR3, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FMN2, FMR1, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FTO, FTSJ1, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GALC, GALNT2, GAMT, GATA3, GATA6, GATAD2B, GATM, GBA, GCDH, GCH1, GCK, GCM2, GCSH, GDI1, GFAP, GFM1, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNA11, GNAO1, GNB1, GNB5, GNPAT, GOSR2, GOT2, GPAA1, GPHN, GPR56, GPSM2, GPT2, GPX4, GRIA2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3F3A, H3F3B, HACE1, HADH, HADHA, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HEATR5B, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HID1, HIVEP2, HLCS, HMBS, HMGCL, HNF1B, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, IDH2, IER3IP1, IFIH1, IFNAR2, IKBKAP, IKBKG, IL1RAPL1, INPP5E, INS, INSR, IQSEC2, IRF2BPL, IRF3, ISG15, ISPD, ITPA, ITPR1, IVD, JAKMIP1, JAM3, JMJD1C, JRK, KANSL1, KARS, KAT5, KAT6A, KAT8, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNJ5, KCNJ6, KCNK4, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM5C, KDM6A, KIAA1109, KIAA1279, KIAA2022, KIF11, KIF1A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KMT2A, KMT2D, KMT2E, KMT5B, KPNA7, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA2, LAMB1, LAMC3, LARGE1, LARS, LBR, LGI1, LIAS, LIPT1, LIPT2, LMAN2L, LMBRD1, LMBRD2, LMNB1, LMNB2, LNPK, LRP2, LRPPRC, LSS, LYST, MACF1, MADD, MAF, MAGEL2, MAGI2, MAN1B1, MANBA, MAP2K1, MAPK10, MAPRE2, MAST1, MATN4, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MDH1, MDH2, MECP2, MED12, MED13L, MED17, MED25, MED27, MEF2C, METTL23, MFF, MFSD2A, MFSD8, MGAT2, MID2, MINPP1, MKS1, MLC1, MLL5, MLYCD, MMAA, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MSX2, MTHFR, MTHFS, MTOR, MTR, MYO1H, MYO5A, MYT1L, NAA10, NACC1, NAGA, NALCN, NANS, NAPB, NARS2, NAXE, NBEA, NCDN, NDE1, NDN, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHS, NID1, NIN, NIPA1, NIPBL, NLGN4X, NOD2, NONO, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSF, NTRK2, NUBPL, NUP214, NUS1, OCLN, OCRL, OFD1, OPA1, OPHN1, ORAI1, OTC, OTUD6B, OTUD7A, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARP6, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PCYT2, PDCD10, PDE10A, PDGFB, PDGFRB, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM2L1, PGM3, PHACTR1, PHF6, PHGDH, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3AP1, PIK3R2, PLA2G6, PLAA, PLCB1, PLP1, PLPBP, PMM2, PMPCB, PNKP, PNPO, PNPT1, POGZ, POLG, POLG2, POMC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPIL1, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKDC, PRMT7, PRNP, PRODH, PROS1, PROSC, PRRT2, PSAP, PSAT1, PSEN1, PSEN2, PSMB8, PSPH, PTCH1, PTEN, PTF1A, PTH, PTPN23, PTS, PUF60, PUM1, PURA, PUS3, QARS1, QDPR, RAB11B, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAI1, RALA, RALGAPA1, RANBP2, RAPSN, RARS2, RBM10, RBP4, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF2, RNU4ATAC, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SACS, SAMHD1, SARS, SASS6, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SEC31A, SEMA6B, SEPSECS, SERPINI1, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SGCE, SGSH, SHANK2, SHANK3, SHH, SHROOM4, SIK1, SIX3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC39A8, SLC45A1, SLC46A1, SLC5A6, SLC6A1, SLC6A8, SLC7A6OS, SLC9A6, SLC9A9, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMG9, SMS, SNAP25, SNIP1, SNORD118, SNRPN, SNX14, SNX27, SOBP, SON, SOX2, SOX5, SPATA5, SPATA5L1, SPR, SPTAN1, SPTBN1, SPTBN4, SPTLC2, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STARD7, STAT1, STAT2, STRADA, STT3A, STT3B, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNCRIP, SYNGAP1, SYNJ1, SYP, SYT14, SZT2, TAF1, TAF1C, TANC2, TANGO2, TBC1D20, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TBP, TBX1, TCF4, TCTN1, TCTN3, TDP1, TDP2, TELO2, TET3, TFE3, THOC2, TIMM50, TK2, TMEM106B, TMEM138, TMEM216, TMEM222, TMEM231, TMEM237, TMEM5, TMEM70, TMLHE, TMTC3, TMX2, TNK2, TNPO2, TPK1, TPP1, TRAF3, TRAF7, TRAK1, TRAPPC11, TRAPPC12, TRAPPC4, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM71, TRIM8, TRIP13, TRIT1, TRMT10A, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTR, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TWNK, TXN2, TXNRD1, TYROBP, UBA5, UBE2A, UBE3A, UBR7, UFC1, UFM1, UGDH, UGP2, UNC80, UPB1, USP18, USP7, USP9X, VAMP2, VARS1, VARS2, VLDLR, VPS11, VPS13A, VPS50, VPS53, WARS2, WASF1, WDR26, WDR37, WDR45, WDR62, WDR73, WFS1, WWOX, XK, XPNPEP3, YIF1B, YIPF5, YWHAG, ZBTB18, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZIC2, ZMIZ1, ZNF142, ZNF335, ZNF423, ZSWIM6
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50 работни дни