Epilepsy, NGS

Epilepsy Panel

21 days

Next Generation Sequencing

Genelist (1226): AARS, AARS1, AASS, ABAT, ABCA2, ABCC8, ABCD1, ACADM, ACADS, ACADSB, ACADVL, ACO2, ACOX1, ACSF3, ACTB, ACTG1, ACTL6B, ACVRL1, ACY1, ADAM22, ADAMTSL2, ADAR, ADCK3, ADD3, ADGRG1, ADGRV1, ADK, ADNP, ADPRHL2, ADSL, AFF3, AFG2A, AFG3L2, AGA, AGK, AGPS, AHI1, AIFM1, AIMP1, AIMP2, AKT2, AKT3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMER1, AMPD2, AMT, ANK3, ANKLE2, ANKRD11, ANTXR2, AP1S2, AP2M1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, NAXE, APOPT1, APP, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGDIA, ARHGEF15, ARHGEF9, ARID1B, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATIC, ATM, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP5F1A, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATPAF2, ATR, ATRX, AUH, AUTS2, AVPR2, B3GALNT2, B3GALTL, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11B, BCS1L, BEST1, BLTP1, BOLA3, BRAF, BRAT1, BRD2, BSCL2, BTD, BUB1B, C10ORF2, C12ORF57, C19orf12, C2CD3, CA5A, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CARS2, CASK, CASQ2, CASR, CAV1, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88A, CCDC88C, CCL2, CCM2, CD96, CDK5, CDK9, CDKL5, CDKL5, ADA2, CENPE, CENPJ, CEP164, CEP290, CERS1, CERT1, CFH, CFHR1, CFHR3, CHD1, CHD2, CHMP2B, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CIT, CKAP2L, CLCN2, CLCN4, CLCN6, CLCNKA, CLCNKB, CLDN16, CLDN19, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP1, CNTNAP2, COA7, COA8, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL11A2, COL18A1, COL4A1, COL4A2, COL4A3BP, COL6A2, COLGALT1, COQ2, COQ4, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CP, CPA6, CPLX1, CPS1, CPT1A, CPT2, CRB2, CREBBP, CRH, CRIPT, CRLF1, CSF1R, CSNK2A1, CSNK2B, CSTB, CTC1, CTLA4, CTNNA2, CTNNB1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUL4B, CUX2, CYFIP2, CYP24A1, CYP27A1, CYP27B1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS, DARS1, DARS2, DBT, DCAF17, DCHS1, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX30, DIAPH1, DIP2B, DKC1, DLAT, DLD, DLL3, DMXL2, DNAJC5, DNASE1, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DONSON, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYNC1H1, DYNC2H1, DYRK1A, EARS2, EBP, ECE1, ECHS1, ECM1, EEF1A2, EFHC1, EFTUD2, EGF, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, ELOVL4, EMC1, EMC10, EmL1, EMX2, ENG, EPG5, EPM2A, EPRS, EPRS1, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXT2, F2, F5, FA2H, FADD, FAH, FAM111A, FAM126A, FAR1, FARS2, FARSB, FASN, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FCGR2A, FCGR2B, FDFT1, FDX1L, FDX2, FGD1, FGF12, FGF3, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLVCR2, FMN2, FOLR1, FOXG1, FOXP1, FOXRED1, FRMPD4, FRRS1L, FTL, FTO, FUCA1, FUT8, FXYD2, GAA, GABBR2, GABRA1, GABRA2, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GALC, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA1, GBE1, GCDH, GCH1, GCK, GCM2, GCSH, GFAP, GFER, GFM1, GFM2, GFPT1, GJA1, GJB1, GJC2, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GNAO1, GNAQ, GNAS, GNB1, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOLGA2, GOSR2, GOT2, GPAA1, GPC3, GPHN, GPR56, GPR98, GPX4, GRIA2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, GUF1, GUSB, GYS2, H19, HACE1, HADH, HADHA, HADHB, HAX1, HCCS, HCFC1, HCN1, HCN2, HCN4, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HIVEP2, HLCS, HMBS, HMGCL, HMGCS2, HNRNPH2, HNRNPU, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA1, HTT, HUWE1, HYCC1, HYLS1, IARS2, IBA57, ICK, IDS, IDUA, IER3IP1, IFIH1, IFNG, IKBKG, INSR, IQSEC2, IRF2BPL, IRF3, ISCA2, ISG15, ITPA, IVD, JAG1, JAK2, JAM3, KANSL1, KAT6A, KAT6B, KAT8, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM5C, KDM6A, RUBCN, LNPK, KIF11, KIF14, KIF1A, KIF2A, KIF5A, KIF5C, KIF7, KIFBP, KLHL15, KMT2A, KMT2C, KMT2D, KMT2E, KPNA7, KRAS, KRIT1, KRT8, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE, LARGE1, LARS, LARS2, LAS1L, LAT, LBR, LDB3, LGI1, LIAS, LIPA, LIPT1, LIPT2, LMAN2L, LMNB1, LMNB2, LONP1, LRPPRC, LYRM7, LYST, MACF1, MAF, MAGEL2, MAGI2, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAPK10, MAPRE2, MARS2, MBD5, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCOLN1, MCPH1, MDH2, ME2, MECP2, MECR, MED12, MED17, MEF2C, MFF, MFN2, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICAL1, MIPEP, mLC1, mLPH, mLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPI, MPV17, MRPL44, MRPS22, MS4A1, MSX2, MTFMT, MTHFR, MTHFS, MTOR, MTR, MTRFR, MTRR, MYH3, MYO5A, MYOT, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NAXD, NAXE, NBAS, NBEA, NDE1, NDN, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEFH, NEU1, NEUROD2, NEXMIF, NF1, NFE2L2, NFU1, NGLY1, NHLRC1, NIN, NIPBL, NKX6-2, NLGN4X, NOL3, NONO, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NRAS, NRXN1, NSD1, NSD2, NSDHL, NT5C2, NTNG1, NTRK2, NUBPL, NUS1, OAT, OBFC1, OCLN, OCRL, OFD1, OMG, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD6B, OTX2, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARS2, PAX2, PAX6, PC, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCDH19, PCLO, PCNT, PCYT2, PDCD10, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP3, PGBD3, PGK1, PGM1, PHACTR1, PHF6, PHGDH, PHYH, PIGA, PIGB, PIGC, PIGG, PIGH, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PITRM1, PLA2G6, PLAA, PLCB1, PLCG2, PLEKHG2, PLK4, PLP1, PLPBP, PMM2, PMP22, PMPCB, PNKD, PNKP, PNPLA8, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMK, POMP, POMT1, POMT2, PPA2, PPP1R15B, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKDC, PRMT7, PROC, PRODH, PROK2, PROKR2, PROP1, PROSC, PRPS1, PRRT2, PRRX1, PRUNE, PSAP, PSAT1, PSEN1, PSPH, PTCH1, PTCH2, PTEN, PTF1A, PTH, PTPN11, PTPN22, PTPN23, PTS, PUM1, PURA, PUS3, PYCR2, QARS, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB27A, RAB39B, RAB3GAP1, RAC1, RAI1, RALA, RALGAPA1, RANBP2, RARS, RARS1, RARS2, RBFOX1, RBFOX3, RBM8A, RELN, RFT1, RHOBTB2, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF216, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPS6KA3, RRM2B, RTN4IP1, RTTN, RUSC2, RYR2, RYR3, SAMD9, SAMHD1, SASS6, SATB2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SELENOI, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD2, SGCE, SGPL1, SGSH, SHANK3, SHH, SHOC2, SIK1, SIN3A, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A3, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC25A42, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A8, SLC46A1, SLC4A1, SLC4A10, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC9A6, SMAD4, SMARCA2, SMARCB1, SMC1A, SMC3, SMG9, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SNORD118, SNRPN, SNTA1, SNX14, SNX27, SON, SOX10, SOX2, SPART, SPATA5, SPG11, SPG7, SPR, SPRED1, SPTAN1, SPTBN4, SRD5A3, SRGAP2, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STAT1, STIL, STRADA, STT3A, STX11, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TAF1, TANGO2, TBC1D20, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TCIRG1, TDP2, TECPR2, TGDS, TGFB1, TH, THOC2, TIMM50, TIMM8A, TIMMDC1, TINF2, TK2, TMEM106B, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM67, TMEM70, TMTC3, TMX2, TNK2, TP53, TP53RK, TPK1, TPP1, TRAK1, TRAPPC11, TRAPPC4, TRAPPC9, TREM2, TREX1, TRIM8, TRIO, TRIT1, TRPM6, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TTR, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUFM, TUSC3, TWNK, TXN2, TYMP, TYROBP, UBA5, UBB, UBE2A, UBE3A, UBTF, UFM1, UGP2, UMPS, UNC80, UPB1, UQCRQ, USP18, VAMP2, VARS, VARS1, VARS2, VCP, VDR, VPS11, VPS13A, VPS13B, VPS53, WAC, WARS2, WASF1, WDR26, WDR37, WDR45, WDR45B, WDR62, WDR73, WFS1, WWOX, XK, XPA, XPNPEP3, XPR1, YWHAG, YY1, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZNF142, ZNF335, ZNHIT3, ZSWIM6

Accredited NRL Laboratory

Once a week

Identify genetic mutations linked to epilepsy; facilitate diagnosis, prognosis, and treatment planning.

Peripheral Blood

5-7 mL whole blood OR DNA ≥ 100 µL

Lavender-top (EDTA) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.