Panel genetic Epilepsie - Epilepsy panel

Testul identifică mutațiile patogene sau probabil patogene în gene asociate cu epilepsia genetică, contribuind la diagnostic, management și consiliere genetică.

Gene analizate

Panel extins 783 gene implicate în epilepsie:

AARS1, AARS2, ABAT, ABCC8, ABCD1, ABCD3, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTL6B, ACY1, ADA, ADAM22, ADAMTS10, ADAMTSL2, ADAR, ADGRG1, ADSL, AFF3, AFG2A, AFG3L2, AGA, AGK, AGPS, AIFM1, AIMP1, AIMP2, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, ANK3, ANTXR2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APP, APTX, ARG1, ARHGAP31, ARHGEF9, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASS1, ASXL1, ATM, ATP13A2, ATP1A2, ATP6AP1, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATPAF2, ATRX, AUH, B3GALNT2, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BLTP1, BOLA3, BRAT1, BTD, C12orf57, C19orf12, CA5A, CACNA1A, CACNA1E, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CAV1, CBS, CCDC88A, CDKL5, CERS1, CHD2, CHMP2B, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CLCN2, CLCN4, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CLTC, CNNM2, CNPY3, CNTNAP1, CNTNAP2, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPA6, CPLX1, CPS1, CPT1A, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTNNA2, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCX, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR7, DHDDS, DHFR, DHX30, DIAPH1, DKC1, DLAT, DLD, DLL3, DNAJC5, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EGF, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EMC10, EML1, EPG5, EPM2A, EPRS1, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, F2, F5, FA2H, FAH, FARS2, FARSB, FASTKD2, FBXL4, FDX2, FGF12, FH, FHL1, FIG4, FKRP, FLVCR2, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FXYD2, GAA, GABBR2, GABRA1, GABRA2, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GALT, GAMT, GAN, GBA1, GBE1, GCDH, GCH1, GFAP, GFER, GFM1, GFM2, GFPT1, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GMPPA, GNAO1, GNAQ, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GOT2, GPAA1, GPC3, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP2, GTPBP3, GUF1, GUSB, HACE1, HADHA, HADHB, HCFC1, HCN1, HEPACAM, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HLCS, HMGCL, HMGCS2, HNRNPR, HNRNPU, HRAS, HSD17B4, HSPD1, HTRA1, HYCC1, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IQSEC2, ISCA2, ITPA, IVD, JAG1, JAM3, KAT8, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, KCTD7, KIF2A, KIF5A, KMT2E, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE1, LAT, LDB3, LGI1, LIAS, LIPA, LIPT1, LMNB1, LRPPRC, LYRM7, LYST, MAF, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MARS2, MBD5, MCCC1, MCCC2, MCOLN1, MDH2, MECP2, MECR, MED17, MEF2C, MFF, MFN2, MFSD8, MGAT2, MGME1, MLC1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPS22, 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, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDE1, 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, NRXN1, NSD2, NUBPL, NUS1, OAT, OCLN, OCRL, OPA1, OPA3, OSGEP, OTC, OTUD6B, P4HTM, PACS2, PAFAH1B1, PAH, PAK1, PANK2, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, 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, PHACTR1, PHGDH, PHYH, PIGA, PIGB, PIGH, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PLA2G6, PLAA, PLCB1, PLCG2, PLEKHG2, PLK1, PLP1, PMM2, PMP22, PMPCB, PNKP, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2CA, PPP2R1A, PPP3CA, PPT1, PRF1, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRPS1, PRRT2, PSAP, PSEN1, PTEN, PTPN23, PTS, PUM1, PURA, PYCR2, QARS1, QDPR, RAB11A, RAB11B, RAB27A, RAI1, RALA, RALGAPA1, RARS1, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF216, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SELENOI, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETD1A, SGCE, SGSH, SIK1, SLC12A3, SLC12A5, SLC13A3, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SLC6A1, SLC6A8, SLC7A7, SLC9A6, SMC1A, SMPD1, SNIP1, SNTA1, SNX27, SON, SOX10, SPART, SPG11, SPG7, SPTAN1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAMBP, STAT1, STT3A, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TBC1D24, TBCD, TBCE, TBCK, TCF4, TDP2, TGFB1, TIMM50, TIMM8A, TINF2, TK2, TMEM106B, TMEM126A, TMEM165, TMEM70, TMX2, TNK2, TPK1, TPP1, TRAK1, TRAPPC4, TRAPPC9, TREM2, TREX1, TRIM8, TRPM6, TRPV4, TSC1, TSC2, TSEN54, TSFM, TTC19, TUBA1A, TUBB2A, TUBB2B, TUBB4A, TUBG1, TUFM, TUSC3, TWNK, TYMP, TYROBP, UBE2A, UBE3A, UFM1, UGP2, UMPS, UPB1, UQCRQ, VAMP2, VARS1, VARS2, VCP, VMA12, VMA22, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR73, WFS1, WWOX, YWHAG, ZEB2, ZFYVE26, ZNF142, ZNF335.