Badamy 1057 genów, metodą Sekwencjonowania Nowej Generacji (NGS)
Badane geny:
AARS, AARS2, ABAT, ABCC8, ABHD16A, ACOX1, ACTB, ACTG1, ACTL6B, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADCY5, ADGRG1, ADGRL1, ADGRV1, ADNP, ADPRHL2, ADRA2B, ADSL, AFDN, AFF3, AFG3L2, AGA, AGMO, AGO1, AHDC1, AHI1, AIMP1, AKT1, AKT3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANK3, ANKRD11, ANKRD17, AP1G1, AP2M1, AP3B2, AP3D1, AP4B1, AP4M1, APC2, ARF1, ARFGEF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1A, ARID1B, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASH1L, ASNS, ASPA, ASPM, ASTN1, ASXL2, ASXL3, ATAD1, ATIC, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP2B1, ATP5F1A, ATP5F1E, ATP5MC3, ATP5PO, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATPAF2, ATRX, AUH, AUTS2, B3GALNT2, B4GALT1, B4GAT1, BAP1, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCS1L, BICD2, BOLA3, BPTF, BRAF, BRAT1, BRD2, BSCL2, BTD, BUB1B, C12orf57, C19orf12, C2orf69, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CAMSAP1, CAMTA1, CAPRIN1, CARS2, CASK, CASR, CBL, CC2D2A, CCDC186, CCDC22, CCDC88A, CCDC88C, CCL2, CCM2, CCND2, CDC42BPB, CDK13, CDK19, CDK5, CDKL5, CELF2, CENPF, CENPJ, CEP290, CEP85L, CERS1, CHD1, CHD2, CHD3, CHD4, CHD5, CHKA, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN3, CLCN4, CLDN5, CLN3, CLN5, CLN6, CLN8, CLPB, CLTC, CNKSR2, CNNM2, CNOT9, CNPY3, CNTN2, CNTNAP1, CNTNAP2, COG4, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, CP, CPA6, CPLX1, CPSF3, CPT2, CRADD, CREBBP, CRH, CSF1R, CSNK1E, CSNK2A1, CSNK2B, CSTA, CSTB, CTNNA2, CTSA, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX2, CWF19L1, CXorf56, CYFIP2, CYP27A1, D2HGDH, DAG1, DBT, DCHS1, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX16, DHX30, DHX9, DIAPH1, DLD, DLG4, DLL1, DMRTA2, DMXL2, DNAH14, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOHH, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DROSHA, DYNC1H1, DYNC2H1, DYRK1A, EARS2, ECHS1, ECM1, EED, EEF1A2, EEF1B2, EFHC1, EFTUD2, EHMT1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, ELOVL4, EMC1, EMC10, EML1, EMX2, EOMES, EPG5, EPM2A, ERMARD, ESAM, ETFDH, ETHE1, EXOC7, EXOSC3, EXT2, FA2H, FAR1, FARS2, FASN, FASTKD2, FBXL4, FBXO11, FBXO28, FDFT1, FGD1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRA10AC1, FRMD5, FRRS1L, FUCA1, FUK, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNT2, GAMT, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAO1, GNB1, GNB5, GNE, GNS, GOSR2, GOT2, GPAA1, GPC3, GPHN, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GSS, GTPBP2, GTPBP3, H3F3A, H3F3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HCN4, HDAC4, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HGSNAT, HID1, HIVEP2, HLCS, HMGCL, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HTT, IARS2, IBA57, IDH2, IDS, IER3IP1, IFIH1, INTS8, IQSEC2, IRF2BPL, ISPD, ITGB4, ITPA, JARID2, JMJD1C, KANSL1, KARS, KAT5, KAT6A, KAT8, KATNB1, KCNA1, KCNA2, KCNA6, KCNAB2, KCNB1, KCNC1, KCNC2, KCND2, KCND3, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM2B, KDM4B, KDM5A, KDM5C, KDM6A, KIAA1109, KIF1A, KIF1BP, KIF2A, KIF5A, KIF5B, KIF5C, KLHL20, KMT2A, KMT2B, KMT2D, KMT2E, KMT5B, KPNA7, KPTN, KRAS, KRIT1, L2HGDH, LAMA2, LAMC3, LARGE1, LARS, LBR, LGI1, LIAS, LIG3, LIPT2, LMBRD2, LMNB2, LMX1B, LNPK, LRBA, LRPPRC, LSS, LYST, MACF1, MADD, MAF, MANBA, MAP1B, MAP2K1, MAP2K2, MAPK10, MARCH6, MAST1, MAST3, MAST4, MBD5, MBOAT7, MCM3AP, MCOLN1, MCPH1, MDH1, MDH2, ME2, MECP2, MED11, MED12, MED13L, MED17, MED23, MED27, MEF2C, MFF, MFSD8, MGAT2, MINPP1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTHFS, MTOR, MTR, MYCBP2, MYT1L, NAA10, NAA15, NACC1, NAGLU, NALCN, NAPB, NARS, NARS2, NAXE, NBEA, NCDN, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHLRC2, NIPBL, NOTCH3, NOVA2, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSRP1, NTNG1, NTRK2, NUBPL, NUP214, NUS1, OCLN, OCRL, OFD1, OGDHL, OPHN1, OSGEP, OTUD5, OTUD6B, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK2, PAK3, PANK2, PARP6, PARS2, PAX6, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCLO, PCNT, PCYT2, PDCD10, PDE2A, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP2, PGAP3, PGK1, PHACTR1, PHF21A, PHF6, PHGDH, PI4K2A, PIDD1, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3C2B, PIK3CA, PIK3R2, PINK1, PIP5K1C, PLA2G6, PLAA, PLCB1, PLK1, PLP1, PLPBP, PLXNA1, PLXNC1, PMM2, PMPCB, PNKP, PNPLA8, PNPO, PNPT1, POGZ, POLG, POLG2, POLR1A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU3F3, PPFIBP1, PPIL1, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRNP, PRODH, PRPF8, PRRT2, PRUNE1, PSAP, PSAT1, PSPH, PTBP1, PTCH1, PTEN, PTF1A, PTPN11, PTPN23, PTS, PUF60, PUM1, PURA, PUS3, QARS, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB5C, RABGAP1, RAC3, RAI1, RALA, RALGAPA1, RAPGEF2, RARS2, RBFOX1, RBFOX3, RELN, RERE, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNU4ATAC, ROGDI, RORA, RORB, RPGRIP1L, RPH3A, RPIA, RPS6KA3, RRM2B, RTN4IP1, RTTN, RUSC2, RXYLT1, RYR3, SACS, SAMD12, SAMHD1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGSH, SHANK3, SHH, SHOC2, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC38A3, SLC39A8, SLC45A1, SLC46A1, SLC4A10, SLC5A6, SLC6A1, SLC6A8, SLC7A6OS, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMS, SNAP25, SNAP29, SNIP1, SNX27, SON, SOX11, SOX2, SPATA5, SPATA5L1, SPR, SPRED1, SPTAN1, SPTBN1, SPTBN4, SRCAP, SRGAP2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STARD7, STIL, STRADA, STX1A, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TAF1C, TAF8, TANC2, TANGO2, TAOK1, TARS2, TBC1D20, TBC1D24, TBC1D2B, TBC1D7, TBCD, TBCK, TBL1XR1, TBX1, TBX19, TCEAL1, TCF4, TDP2, TELO2, TET3, TFE3, TGIF1, THG1L, THOC2, TIAM1, TIMM50, TK2, TLK2, TMEM106B, TMEM222, TMEM63B, TMEM67, TMEM70, TMTC3, TMX2, TNK2, TNPO2, TNRC6A, TPK1, TPP1, TRA2B, TRAF7, TRAK1, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC4, TRAPPC6B, TREM2, TREX1, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSPYL1, TTC5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP6, TWNK, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBR7, UBTF, UFM1, UFSP2, UGDH, UGGT1, UGP2, UMPS, UNC79, UNC80, USP18, VAMP2, VARS, VARS2, VLDLR, VPS11, VPS13A, VPS13B, VPS13D, VPS4A, WAC, WARS2, WASF1, WASHC4, WDFY3, WDR26, WDR37, WDR45, WDR45B, WDR5, WDR62, WDR73, WNK3, WWOX, XPR1, YEATS2, YIF1B, YIPF5, YWHAE, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZMYND11, ZMYND8, ZNF142, ZNF148, ZNF335, ZNF526, ZNHIT3, ZSWIM6
Badane choroby:
- PADACZKA (EPILEPSJA) - padaczka to choroba, w przebiegu której dochodzi do zaburzenia czynności mózgu. Dane wskazują, że dotyczy ona ok. 50 milionów osób na całym świecie, może ona pojawić się w każdym wieku. Wśród przyczyn jej występowania wymienia się skłonności genetyczne - predyspozycje te można wykryć przy pomocy specjalistycznych testów DNA.