Broj gena
1109
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Epilepsija panel Upgraded Genome uključuje gene povezane sa monogenim epilepsijama (npr. Dravet sindrom, GEFS-Plus, autosomno dominantna noćna frontalna lobna epilepsija, progresivne mijoklone epilepsije, benigni familijarni neonatalni epileptički napadi i rijetki monogeni oblici kompleksnih naslijeđenih epilepsija uključujući genetičke generalizovane i genetičke fokalne epilepsije), kao i gene povezane sa epilepsijom (npr. razvojna i epileptička encefalopatija). Ovaj panel uključuje skrining ekspanzije ponavljanja gena ATN1, CACNA1A, CSTB i analizu konverzije GBA1 gena. Panel uključuje i nekodirajući gen RNU4-2.
Geni
AARS1, AARS2, AASS, ABAT, ABCA2, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTL6B, ACY1, ADA, ADAM22, ADAMTS10, ADAMTSL2, ADAR, ADARB1, ADAT3, ADGRG1, ADGRV1, ADPRS, ADSL, AFF3, AFG2A, AFG2B, AFG3L2, AGA, AGK, AGO1, AGPS, AIFM1, AIMP1, AIMP2, AKT1, AKT3, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMPD2, AMT, ANK2, ANK3, ANKRD11, ANO4, ANTXR2, AP1G1, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APP, APTX, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1B, ARSA, ARSB, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASS1, ASXL1, ASXL3, ATM, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP2B1, ATP5F1A, ATP5PO, ATP6AP1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATP7B, ATRX, AUH, B3GALNT2, B3GLCT, B4GALT1, BAP1, BCAP31, BCKDHA, BCKDHB, BCORL1, BCS1L, BEST1, BET1, BLOC1S1, BLTP1, BOLA3, BORCS8, BRAF, BRAT1, BSCL2, BTD, C12orf57, C19orf12, C2orf69, CA5A, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D2, CAD, CAMK2D, CAMK2G, CAMSAP1, CAPRIN1, CARS2, CASK, CASR, CAV1, CBL, CBS, CC2D2A, CCDC186, CCDC88A, CCDC88C, CCND2, CDC42BPB, CDK19, CDKL5, CELF2, CEP85L, CERS1, CERT1, CHAMP1, CHD1, CHD2, CHD4, CHD5, CHKA, CHMP2B, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN2, CLCN3, CLCN4, CLCN6, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP1, CNTNAP2, COA7, COA8, COASY, COG1, COG3, COG4, COG5, COG6, COG7, COG8, COL11A2, COL18A1, COL2A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPLX1, CPS1, CPSF3, CPT1A, CPT2, CREBBP, CRELD1, CRPPA, CSF1R, CSNK2A1, CSNK2B, CSTB, CTC1, CTNNA2, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CTU2, CUL3, CUL4B, CUX1, CUX2, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DENND5B, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHRSX, DHX16, DHX30, DIAPH1, DKC1, DLAT, DLD, DLL1, DLL3, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DPAGT1, DPH5, DPM1, DPM2, DPM3, DPYD, DPYS, DTYMK, DYM, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EFTUD2, EHMT1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, EMC10, EML1, EMX2, ENTPD1, EPG5, EPM2A, EPRS1, ERCC6, ERCC8, ESAM, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXT2, F2, F5, FA2H, FAH, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FBXL4, FBXO11, FBXO28, FDX2, FGF12, FGF13, FGFR3, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FOXRED1, FRMD5, FRRS1L, FTL, FUCA1, FUT8, FXYD2, FZR1, GAA, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GALNT2, GALT, GAMT, GAN, GATAD2B, GATM, GBA1, GBE1, GCDH, GCH1, GCSH, GFAP, GFER, GFM1, GFM2, GFPT1, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLI3, GLRA1, GLRA2, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GNAO1, GNAQ, GNB1, GNB2, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GOT2, GPAA1, GPC3, GPHN, GRIA2, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUSB, H3-3A, H3-3B, HACE1, HADHA, HADHB, HAX1, HCCS, HCFC1, HCN1, HCN2, HECTD4, HECW2, HEPACAM, HERC2, HEXA, HEXB, HGSNAT, HIBCH, HID1, HIKESHI, HLCS, HMGCL, HMGCS2, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA1, HTRA2, HYCC1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IKBKG, IQSEC2, IRF2BPL, ISCA2, ITPA, IVD, JAG1, JAM3, KARS1, KAT5, KAT8, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM6B, KIF1A, KIF2A, KIF5A, KIF5C, KIFBP, KLHL20, KMT2E, KMT5B, KPTN, KRAS, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE1, LARS1, LAT, LDB3, LETM1, LGI1, LIAS, LIPA, LIPT1, LIPT2, LMBRD2, LMNB1, LMNB2, LNPK, LRPPRC, LSS, LYRM7, LYST, MACF1, MADD, MAF, MAGI2, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MARS2, MAST1, MAST3, MBD5, MBOAT7, MCCC1, MCCC2, MCM3AP, MCOLN1, MDH2, MECP2, MECR, MED11, MED12, MED17, MED27, MEF2C, MFF, MFN2, MFSD8, MGAT2, MGME1, MINPP1, MLC1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPS22, MSX1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTHFR, MTHFS, MTOR, MTR, MTRFR, MYO5A, MYOT, NACC1, NAGA, NAGLU, NAGS, NAPB, NARS1, NARS2, NAXD, NAXE, NBAS, NBEA, NCDN, NDE1, 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, NFE2L2, NFU1, NGLY1, NHLRC1, NOTCH1, NOTCH3, NPC1, NPC2, NPR2, NPRL2, NPRL3, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSD2, NSDHL, NSRP1, NTRK2, NUBPL, NUP214, NUS1, OAT, OCLN, OCRL, OGDHL, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD6B, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PANK2, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCLO, PCYT2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PGM2L1, PHACTR1, PHGDH, PHYH, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PIP5K1C, PLA2G6, PLAA, PLCB1, PLCG2, PLEKHG2, PLP1, PLPBP, PLXNA1, PMM2, PMP22, PMPCB, PNKP, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMK, POMT1, POMT2, PPFIBP1, PPIL1, PPP2CA, PPP2R1A, PPP3CA, PPT1, PRDM8, PRF1, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRPF8, PRPS1, PRRT2, PSAP, PSAT1, PSEN1, PSMB8, PSPH, PTCD3, PTCH1, PTEN, PTF1A, PTPN23, PTS, PUM1, PURA, PYCR2, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB27A, RAB3GAP1, RAB3GAP2, RAC3, RAI1, RALA, RALGAPA1, RANBP2, RARS1, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF2, RNF216, RNU4-2, RNU4ATAC, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, RTTN, RUSC2, RYR2, SAMD12, SAMHD1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SEC24D, SELENOI, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGCE, SGSH, SHH, SHQ1, SIK1, SIX3, SLC12A3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC31A1, SLC32A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC38A3, SLC39A8, SLC45A1, SLC4A10, SLC5A6, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC7A7, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMPD1, SMS, SNAP25, SNF8, SNORD118, SNX27, SON, SOX10, SPART, SPG11, SPG7, SPR, SPTAN1, SPTBN1, SPTBN4, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAG1, STAMBP, STARD7, STAT1, STIL, STRADA, STT3A, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TAF8, TANC2, TANGO2, TBC1D20, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TCF4, TDP2, TEFM, TELO2, TET3, TFE3, TGFB1, TGIF1, TIAM1, TIMM50, TIMM8A, TINF2, TK2, TMEM106B, TMEM126A, TMEM165, TMEM222, TMEM63B, TMEM70, TMX2, TNPO2, TPK1, TPP1, TRA2B, TRAF7, TRAK1, TRAPPC12, TRAPPC4, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM8, TRIP13, TRIT1, TRPM3, TRPM6, TRPS1, TRPV4, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUFM, TUSC3, TWNK, TYMP, TYROBP, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBR7, UFC1, UFM1, UFSP2, UGDH, UGP2, UMPS, UNC80, UPB1, UQCRQ, USP18, USP7, VAMP2, VARS1, VARS2, VCP, VLDLR, VMA12, VMA22, VPS11, VPS50, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WFS1, WNK3, WWOX, XK, YIF1B, YIPF5, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZMIZ1, ZMYM2, ZNF142, ZNF335, ZNFX1