Neurology comprehensive panel and Comprehensive epilepsy panel
The Neurology Comprehensive Panel analyzes 882 genes associated with hereditary neurological diseases, and the Comprehensive Epilepsy Panel analyzes 591 genes.
Neurology comprehensive panel (882 genes)
ABAT, ABCA7, ABCB7, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADVL, ACO2, ACSL4, ACTA1, ACTB, ACTG1, ADAR, ADCY5, ADGRG1, ADNP, ADSL, AFF2, AFG3L2, AGA, AGL, AGRN, AHCY, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALAS2, ALDH3A2, ALDH5A1, ALDH7A1, ALDOA, ALG13, ALS2, AMACR, AMPD1, AMPD2, AMT, ANG, ANO10, ANO3, ANO5, ANTXR1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOE, APP, APTX, ARFGEF2, ARG1, ARHGEF10, ARHGEF6, ARHGEF9, ARL13B, ARL6, ARSA, ARX, ASAH1, ASNS, ASPA, ASPM, ATAD3A, ATCAY, ATL1, ATL3, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2B3, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, B3GALNT2, B4GALNT1, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCL11A, BCOR, BEAN1, BICD2, BRAT1, BRWD3, BSCL2, BTD, CA8, CACNA1A, CACNA1C, CACNA1H, CACNA1S, CACNB4, CAMTA1, CAPN1, CAPN3, CASK, CASR, CAV3, CC2D1A, CC2D2A, CCDC88C, CCM2, CCND2, CCT5, CDK5RAP2, CDKL5, CDKN1C, CDON, CENPF, CENPJ, CEP152, CEP290, CEP41, CEP63, CFL2, CHAT, CHCHD10, CHD2, CHD8, CHMP2B, CHN1, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CISD2, CLCN1, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLPP, CNOT3, CNTN6, CNTNAP2, COASY, COL12A1, COL3A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, CP, CPOX, CPT1C, CPT2, CRYAB, CSF1R, CSTB, CTC1, CTDP1, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS2, DCAF17, DCAF8, DCTN1, DCX, DDC, DDHD1, DDHD2, DDX3X, DEPDC5, DES, DHCR24, DHCR7, DHFR, DHTKD1, DIS3L2, DKC1, DLG3, DMD, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK7, DOK7, DPAGT1, DPYD, DPYS, DST, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, ECHS1, ECM1, EED, EEF1A2, EEF2, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELF2, ELK1, ELOVL4, ELOVL5, EMD, EMX2, EN2, ENO3, EPM2A, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EZH2, FA2H, FAM126A, FANCB, FAR1, FARS2, FAT4, FBLN5, FBXL4, FBXO38, FBXO7, FDXR, FECH, FGD1, FGD4, FGF12, FGF14, FGF8, FGFR1, FH, FHL1, FIG4, FKRP, FKTN, FLAD1, FLNA, FLNC, FLVCR1, FLVCR2, FMR1, FOLR1, FOXG1, FOXH1, FOXP1, FOXRED1, FRMD7, FTSJ1, FUS, FXN, GAA, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GAN, GATM, GBA2, GBE1, GCDH, GCH1, GDAP1, GDI1, GFAP, GFM1, GFPT1, GJB1, GJC2, GK, GLB1, GLDC, GLI2, GLI3,
GLRB, GMPPB, GNAL, GNAO1, GNB1, GNB4, GNE, GOSR2, GPC3, GPHN, GPR143, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTPBP3, GYG1, GYS1, HACE1, HADHA, HADHB, HARS2, HCCS, HCN1, HECW2, HEPACAM, HESX1, HEXA, HFE, HIBCH, HINT1, HK1, HMBS, HNRNPA1, HNRNPU, HPRT1, HSD17B10, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTT, HUWE1, IBA57, IDS, IFIH1, IGBP1, IGHMBP2, IL1RAPL1, INF2, INPP5E, IQSEC2, ISCU, ITGA7, ITM2B, ITPR1, KANSL1, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNJ10, KCNJ2, KCNK18, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIF11, KIF1A, KIF1B, KIF1C, KIF21A, KIF5A, KIF7, KLF8, KLHL40, KLHL41, KMT2B, KMT5B, KPTN, KRIT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARS2, LAS1L, LDB3, LDHA, LGI1, LIG4, LIMS2, LITAF, LMNA, LMNB1, LMOD3, LPIN1, LRPPRC, LRRK2, LRSAM1, LYRM7, MAGI2, MAGT1, MAOA, MAPT, MARS2, MBD5, MBTPS2, MCM3AP, MCPH1, MECP2, MED12, MED25, MEF2C, MEGF10, MFN2, MFSD2A, MFSD8, MICU1, MID1, MKKS, MKS1, MLC1, MME, MOCS1, MPDZ, MPZ, MRPL44, MTFMT, MTHFR, MTM1, MTMR2, MTOR, MTPAP, MTTP, MUSK, MYCN, MYH3, MYH7, MYOT, NACC1, NAGLU, NDE1, NDP, NDRG1, NDUFA1, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEB, NECAP1, NEFH, NEFL, NEU1, NFIX, NFU1, NGF, NHEJ1, NHLRC1, NHS, NIPA1, NLGN3, NLGN4X, NODAL, NOL3, NOP56, NOTCH3, NPHP1, NR2F1, NRXN1, NSD1, NSDHL, NTRK1, NUBPL, NXF5, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, OTC, OTX2, PABPN1, PAFAH1B1, PAH, PAK3, PARK7, PAX6, PCDH19, PCNT, PDCD10, PDGFB, PDGFRB, PDHA1, PDK3, PDSS1, PDSS2, PDYN, PEX7, PFKM, PGAM2, PGK1, PGM1, PHF6, PHF8, PHGDH, PHKA1, PHOX2A, PHYH, PI4KA, PIGA, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG5, PLK4, PLP1, PMP22, PNKD, PNKP, PNPLA2, PNPLA6, PNPO, POGLUT1, POGZ, POLG, POLG2, POLR3A, POLR3B, POMGNT2, POMT1, PORCN, PPOX, PPP2R2B, PPT1, PQBP1, PRDM12, PRF1, PRICKLE1, PRIMA1, PRKCG, PRKRA, PRNP, PRODH, PRPS1, PRRT2, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCHD1, PTEN, PTS, PURA, PYCR2, PYGM, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAPSN, RARS2,
RASA1, RBCK1, RBM10, REEP1, RELN, RFC1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, RNF216, ROBO3, ROGDI, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTN2, RTN4IP1, RTTN, RUBCN, RYR1, SACS, SALL4, SAMHD1, SBF1, SBF2, SCARB2, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SDHAF1, SELENON, SEPSECS, SERAC1, SERPINI1, SETD2, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SHANK3, SHH, SHROOM4, SIGMAR1, SIK1, SIL1, SIX3, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC19A3, SLC1A3, SLC20A2,
SLC22A5, SLC25A1, SLC25A15, SLC25A20, SLC25A22, SLC25A26, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC35A2, SLC38A8, SLC39A8, SLC46A1, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A19, SLC6A3, SLC6A8, SLC9A6, SMAD3, SMC1A, SMCHD1, SMN1, SMN2, SMS, SNAP25, SNCA, SNX14, SOD1, SORL1, SOX10, SOX2, SOX3, SPAST, SPATA5, SPEG, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRPX2, ST3GAL3, ST3GAL5, STAMBP, STIL, STIM1, STUB1, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SYP, SYT14, SZT2, TAF1, TANGO2, TARDBP, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBP, TCAP, TCF20, TCF4, TCTN1, TCTN2, TCTN3, TDP1, TFG, TGIF1, TGM6, TH, THAP1, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM43, TMEM67, TNNT1, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TPP1, TRAPPC11, TREM2, TREX1, TRIM2, TRIP12, TRPV4, TSC1, TSC2, TSEN2, TSEN54, TSPAN7, TTBK2, TTC19, TTC8, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TYMP, UBA1, UBA5, UBE2A, UBE3A, UBQLN2, UNC80, UPF3B, UROD, UROS, USP9X, VAMP1, VAPB, VCP, VLDLR, VMA21, VPS13A, VPS35, VPS37A, VRK1, WDPCP, WDR26, WDR45, WDR62, WDR73, WDR81, WFS1, WNK1, WWOX, XRCC4, YWHAE, YY1, ZC4H2, ZCCHC12, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZNF41, ZNF423, ZNF592, ZNF674, ZNF711, ZNF81.
Comprehensive epilepsy panel (591 genes)
The Comprehensive Epilepsy Panel analyzes 591 genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures.
Genes included in the Comprehensive Epilepsy Panel:
MT-TQ, NALCN, COX15, ALG3, GFM1, PCDH19, CPA6, MAP2K1, OFD1, PSAP, MT-RNR1, KANSL1, MICAL1, DNM1L, FOXG1, ACY1, CLCN2, TMEM70, GRIA4, BRD2, ADRA2B, DNAJC5, TSEN54, SCN2A, CLN3, SETD1B, PLAA, IER3IP1, PRRT2, AMACR, COG8, RAB39B, FARS2, AGA, PNKD, SNAP25, ARFGEF2, ALDH4A1, FAM126A, MT-TL1, SLC25A1, GCSH, KCNH5, NTRK2, CACNA1B, DOCK7, PITRM1, RORA, TUBA1A, SSR4, MPDU1, NDST1, MT-ND5, PACS1, PCLO, MT-TH, SLC6A8, POLR3A, ST3GAL3, MGAT2, RBFOX3, CTSD, BRAT1, MTHFR, GNE, EPM2A, NSDHL, ZEB2, DENND5A, POLR3B, PPP2R1A, GUF1, NUBPL, PURA, SLC2A1, MAPK10, MT-ND1, GATM, KCNJ10, PDHA1, GAL, ARHGEF9, SPATA5, FOLR1, SLC25A42, ATAD1, DEAF1, KIF5A, MT-TM, NR2F1, GABRB1, FA2H, GAMT, PPP2CA, ATP1A1, CPT2, KCNH2, SLC35A1, SLC1A3, MT-ATP6, MEF2C, NTNG1, PEX19, PLA2G6, TRIT1, AUH, PIGW, SLC12A5, KCTD3, PLPBP, GLS, PRICKLE1, ACTL6B, RNASEH2C, HSPD1, PEX12, RNASET2, UNC80, PIGP, QDPR, KCTD7, PEX14, CCDC88C, STRADA, PLP1, KIF2A, TWNK, GNS, SGSH, GOSR2, MLC1, TBCK, GFAP, ALDH5A1, DPM2, SCN9A, ATP6V1A, LRPPRC, MED17, SLC25A22, MT-TE, MT-CO2, SIK1, MT-TD, CHRNA4, DEPDC5, ALDH7A1, NPC1, CTSF, TCF4, NEDD4L, HACE1, NECAP1, MTOR, EFHC1, GPHN, RHOBTB2, GABRA1, MBOAT7, COX6B1, ATP7A, CASR, PTEN, TPK1, TBCE, ALG8, CHD2, CACNA1H, PEX10, EHMT1, PIGQ, GABBR2, ST3GAL5, PACS2, CLN5, BCKDK, RNASEH2B, DNM1, NRXN1, SMC1A, NACC1, MT-TK, PRICKLE2, GLDC, SMARCA2, LMNB2, SLC1A4, SYN1, AMT, PLCB1, KCNH1, PIGA, CTC1, TSFM, KCNT2, CLN6, SLC4A10, RELN, ROGDI, ASAH1, SAMHD1, FUT8, SLC13A5, SCARB2, PIGV, TBX1, ARSA, CNKSR2, SERPINI1, MT-ND6, MT-TG, KCNT1, DDX3X, MT-TW, ARHGEF15, CDKL5, CASK, KDM5C, MARS2, SNX27, PRODH, KCNA1, CLTC, TNK2, CAMK2B, NPRL2, NAGLU, CHRNA7, NPC2, TRIM8, ADGRG1, DARS2, WARS2, MT-TR, NIPBL, TREX1, UBE3A, NKX6-2, SCN4A, MT-TS1, CYFIP2, PHGDH, CACNA1E, FUCA1, WWOX, NDUFS7, TPP1, UBE2A, TRAK1, PC, IRF2BPL, KPNA7, NEXMIF, ADGRV1, PEX3, ARG1, ITPA, OCLN, DCX, FGF12, TUBB2A, AKT3, MT-TV, CNPY3, IDS, DHPS, CSF1R, DYRK1A, PHF6, PHACTR1, WDR26, ATP2A2, RANBP2, NDUFAF3, PGK1, SHANK3, GRIA3, ALG13, BOLA3, ME2, TSC2, CSNK2B, STX1B, FBXO11, CUX2, MCPH1, CNTNAP2, GCH1, ATP1A2, MT-ND2, CLN8, LGI1, KCND2, ATP6AP2, HDAC8, EEF1A2, RUSC2, PPP3CA, ADNP, GPAA1, GRIK2, HEXA, SATB2, MT-TI, GLB1, COX10, GABRD, NDE1, PIGB, AP4B1, HNRNPU, ARX, IQSEC2, IBA57, NHLRC1, EML1, ALG12, SDHAF1, FAR1, DHFR, CACNB4, KCNAB2, MFSD8, YWHAG, EIF3F, MAP2K2, DOLK, PEX1, SLC19A3, ATIC, DIAPH1, PRIMA1, COQ9, EIF2B1, CARS2, NDUFA1, PYCR2, SCN10A, PUM1, TANGO2, GALC, PSAT1, EIF2B2, CACNA2D2, SDHA, GLUD1, ABCA2, LAMC3, EARS2, ALG1, CNTN2, P4HTM, SLC35C1, CYP27A1, LAMA2, HPD, ANKRD11, RORB, MT-TF, VAMP2, HCN1, COQ8A, NBEA, CACNA1G, KCNV2, ZIC2, GRIN2D, ALG6, CC2D2A, DPYD, SCN1B, PIGS, KIF1A, GRN, MOCS2, CHRNB2, HCN4, TSC1, KCNMA1, NEUROD2, SLC35A2, GRIN1, PNPO, NPRL3, CPLX1, PPT1, MT-TP, RAI1, ZNHIT3, FLNA, TK2, CUL4B, PQBP1, GABRB2, SCN3A, HEXB, KDM6A, MED12, NDUFS6, TBC1D24, PEX5, SCN8A, EIF2B5, CACNA1D, MRPL44, CAD, PIGC, KMT2D, RMND1, ADSL, SLC6A5, GCDH, COA7, CTSA, MT-ND4, CACNA1A, PEX6, DMXL2, ASPA, MT-ND3, ECM1, MDH2, NUS1, SLC46A1, ASXL3, MBD5, ASNS, PTPN23, SLC25A15, ARV1, ETHE1, KCNA2, DEGS1, NEU1, CCDC88A, KIF5C, SLC6A1, TBCD, PDSS2, RBFOX1, ABAT, ECHS1, HSD17B10, MT-TT, NSD1, SCO2, OPHN1, SCN1A, PARS2, SLC9A6, DPM1, PCNT, SMC3, PEX26, PAFAH1B1, COQ4, LIAS, SPTAN1, NF1, PMM2, SYNJ1, MOCS1, KCNB1, ADAR, GFM2, DHDDS, PTS, CLCN4, CRH, RAB11A, VPS13A, COG7, PEX7, COL4A2, FOXRED1, TBL1XR1, MT-TA, UBTF, CHRNA2, ALDH3A2, EMX2, SRGAP2, BTD, MIPEP, HEPACAM, RARS2, SZT2, TSEN2, D2HGDH, GNB1, SLC17A5, SUOX, EIF2B4, KCNQ2, KCNC1, KCNK4, SYP, HGSNAT, ATP1A3, SLC1A2, STXBP2, SURF1, PNKP, UBA5, COQ2, DYNC1H1, KMT2E, COL18A1, AP3B2, KCNQ3, NFU1, ZDHHC9, SLC39A8, HIBCH, HTRA1, KRAS, SYNGAP1, GRIN2A, GRIN2B, FRRS1L, HTT, TUBB2B, SMS, WASF1, NDUFA2, MT-CYB, RNF13, SGCE, NDUFS8, HDAC4, RFT1, STXBP1, POLG, HCN2, PIGG, MOGS, SETBP1, TSEN34, PTCH1, FH, MECP2, COG5, GTPBP3, COL4A1, FASN, L2HGDH, TUBB4A, TUBA8, KCNQ5, DLD, NGLY1, CSTB, SERAC1, RAB11B, ATP13A2, GNAO1, PEX16, NDUFAF6, EIF2B3, RNASEH2A, AP4S1, GABRA2, PIGT, HECW2, NOTCH3, GLI2, SLC25A12, YY1, VPS13B, MT-TS2, SHH, DPAGT1, GABRB3, PIGN, SUMF1, GABRG2, NDUFV1, AP2M1, WDR45, ADAM22, ZSWIM6, PSPH, DPYS, MT-TL2, ALG9, PEX13, KCNJ11, PIGO, PEX2, RALA, SIX3.