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EpiXpanded Panel

New York
Approved


Genes

AAAS, AARS, AARS2, AASS, ABAT, ABCA2, ABCA5, ABCB7, ABCC8, ABCC9, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACAT1, ACMSD, ACO2, ACOT7, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTL6B, ACVR1, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADCK3, ADCK4, ADD3, ADGRG1, ADK, ADNP, ADPRHL2, ADRA2B, ADSL, AFF2, AFG3L2, AGA, AGGF1, AGK, AGTPBP1, AGTR2, AHDC1, AHI1, AHSG, AIFM1, AIMP1, AIMP2, AKT1, AKT2, AKT3, ALAD, ALDH18A1, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALMS1, ALPL, ALX4, AMACR, AMER1, AMPD2, AMT, ANGPTL6, ANK2, ANKH, ANKLE2, ANKRD11, ANO10, ANO3, ANTXR1, AP1S2, AP2M1, AP2S1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOA1BP, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGDIA, ARHGEF15, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARID4A, ARL13B, ARL6IP6, ARMC9, ARNT2, ARSA, ARV1, ARVCF, ARX, ASAH1, ASCL1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASTN1, ASTN2, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATIC, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP5A1, ATP5D, ATP5E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATPAF2, ATR, ATRIP, ATRX, AUH, AUTS2, AVPR2, B3GALNT2, B3GALTL, B4GALT1, B4GAT1, B9D1, B9D2, BAZ1B, BAZ2B, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCS1L, BDNF, BMP2, BMP4, BOLA3, BPTF, BRAF, BRAT1, BRCC3, BRD4, BRPF1, BRWD3, BSCL2, BSN, BTD, BUB1B, BUB3, C10orf2, C11orf95, C12orf57, C12orf65, C17orf89, C19orf70, C5orf42, C2CD3, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CACNG2, CAD, CALM1, CAMK2A, CAMK2B, CAMKMT, CAMTA1, CARKD, CARS, CARS2, CASK, CASP10, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC141, CCDC23, CCDC88A, CCDC88C, CCM2, CCND2, CCR1, CD96, CDC42, CDH11, CDH15, CDH2, CDK10, CDK13, CDK19, CDK5, CDK5RAP2, CDK6, CDK8, CDKL5, CDKN1C, CDON, CECR1, CELF4, CENPE, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP57, CEP63, CEP85L, CEP89, CERS1, CHAMP1, CHAT, CHD1, CHD1L, CHD2, CHD4, CHD7, CHD8, CHKB, CHL1, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CIT, CKAP2L, CLCF1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLEC7A, CLIC2, CLIP1, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT3, CNPY3, CNTN2, CNTN4, CNTNAP1, CNTNAP2, COA3, COA5, COA7, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL13A1, COL18A1, COL4A1, COL4A2, COL4A3BP, COLGALT1, COMT, COPB2, COQ2, COQ4, COQ5, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX6B1, COX7B, COX8A, CPA6, CPLX1, CPOX, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRELD1, CRH, CRHR1, CRIPT, CRKL, CRLF1, CSF1R, CSMD1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTH, CTNNA2, CTNNB1, CTNND2, CTR9, CTSA, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX1, CUX2, CXCR4, CXORF56, CYB5R3, CYC1, CYFIP2, CYP27A1, CYP27B1, CYP2C9, CYP2R1, CYP2U1, D2HGDH, DAG1, DARS2, DBH, DBT, DCC, DCHS1, DCX, DDC, DDOST, DDX3X, DDX6, DEAF1, DEGS1, DENND5A, DEPDC5, DGKD, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX16, DHX30, DHX37, DIAPH1, DIP2B, DIP2C, DIS3L2, DISP1, DLAT, DLD, DLG1, DLG2, DLG3, DLG4, DLGAP2, DLL1, DLL4, DMBX1, DMD, DMXL2, DNA2, DNAJC12, DNAJC19, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPH1, DPM1, DPM2, DPM3, DPYD, DPYS, DSCAM, DSTYK, DYNC1H1, DYNC1I2, DYRK1A, EARS2, EBF3, EBP, ECE1, ECHS1, ECM1, EDC3, EEF1A2, EFHC1, EFHC2, EFTUD2, EGF, EHHADH, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELMO2, ELOVL4, ELP4, EMC1, EMG1, EML1, EMX2, EOGT, EP300, EPB41L1, EPG5, EPM2A, EPRS, EPT1, ERBB2IP, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC6B, EXOC7, EXOSC3, EXOSC8, EXOSC9, EXT2, EXTL3, EZH2, FA2H, FADD, FAM111A, FAM126A, FAM183A, FAM50A, FAM58A, FAR1, FARS2, FARSB, FASLG, FASN, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FBXO28, FBXO31, FBXW11, FBXW7, FDFT1, FDXR, FGD1, FGF12, FGF13, FGF23, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FIG4, FKRP, FKTN, FLII, FLNA, FLRT3, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXH1, FOXP1, FOXRED1, FRMPD4, FRRS1L, FTL, FTO, FTSJ1, FTSJ2, FUCA1, FUK, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GABRG3, GABRQ, GABRR1, GABRR3, GAD1, GAL, GALC, GAMT, GAS1, GATA3, GATA6, GATAD2B, GATM, GBA, GCDH, GCH1, GCM2, GCSH, GDI1, GDNF, GEMIN4, GFAP, GFER, GFM1, GFM2, GJA1, GJC2, GK, GLB1, GLDC, GLE1, GLI2, GLI3, GLRA1, GLRB, GLRX5, GLS, GLTSCR1, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAO1, GNAQ, GNAS, GNB1, GNB5, GNE, GNPTAB, GNPTG, GNRH1, GNS, GOLGA2, GOSR2, GOT2, GP9, GPAA1, GPC3, GPC4, GPHN, GPM6A, GPR161, GPSM2, GPT2, GRIA2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM7, GRM8, GRN, GSPT2, GSS, GTF2E2, GTF2H5, GTF2IRD1, GTPBP2, GTPBP3, GUCY1A3, GUF1, GUSB, GYS2, H3F3A, H3F3B, HACE1, HADH, HARS2, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIC1, HIP1, HIRA, HIVEP2, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNRNPH2, HNRNPK, HNRNPL, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTR1A, HTRA1, HTRA2, HUWE1, HYLS1, IARS, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT140, IL10, IL12A, IL12B, IL12RB2, IL17F, IL17RA, IL1RAPL1, IL23R, IL27RA, ILF2, IMPAD1, INO80, INPP4A, INPP5E, INPP5K, INS, INSR, INTS6, INTS8, INVS, IQCB1, IQSEC1, IQSEC2, IREB2, IRF2BPL, ISCA1, ISCU, ISG15, ISPD, ITGB6, ITPA, ITPR1, IVD, JAM3, JMJD1C, KANK1, KANSL1, KARS, KAT2B, KAT6A, KAT6B, KAT8, KATNB1, KCNA1, KCNA2, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNJ6, KCNK4, KCNMA1, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM2B, KDM3B, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0195, KIAA0226, KIAA0556, KIAA0586, KIAA0753, KIAA1033, KIAA1109, KIAA1279, KIAA1715, KIAA2022 (NEXMIF), KIF11, KIF1A, KIF2A, KIF4A, KIF5A, KIF7, KIRREL3, KISS1, KLF13, KLHL15, KLHL7, KLLN, KLRC4, KMT2A (MLL), KMT2C, KMT2D, KMT2E, KPNA7, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAGE3, LAMA2, LAMB1, LAMC3, LARGE, LARS, LARS2, LAS1L, LBR, LEO1, LETM1, LGI1, LGI4, LHX1, LIAS, LIG4, LIMK1, LINGO1, LIPT1, LIPT2, LMAN2L, LMBRD1, LMNB2, LONP1, LRFN2, LRP2, LRPPRC, LSS, LYRM7, LYST, MACF1, MADD, MAF, MAFB, MAGEL2, MAGI2, MAN1B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK10, MAPK3, MAPK8IP3, MAPRE2, MARS2, MAST1, MAT1A, MATN4, MBD5, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM4, MCOLN1, MCPH1, MCTP2, MDH1, MDH2, ME2, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEGF10, MEIS2, METTL23, MFF, MFHAS1, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICAL1, MID1, MID2, MIPEP, MKS1, MLC1, MLLT3, MLX, MLYCD, MMAA, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPDZ, MPLKIP, MPP7, MPV17, MRAP, MRI1, MRPL12, MRPL44, MRPS16, MRPS22, MSL3, MSX2, MTFMT, MTHFS, MTO1, MTOR, MTPAP, MTR, MTRR, MUT, MVK, MYH1, MYH3, MYO1H, MYO5A, MYO7B, MYO9A, MYOCD, MYRF, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS, NARS2, NAT8L, NBAS, NBEA, NCAPD3, NCOR1, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEK1, NEK9, NELFA, NEU1, NEUROD2, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHEJ1, NHLRC1, NHLRC2, NID1, NIN, NIPA1, NIPA2, NIPBL, NKX6-2, NLGN1, NLGN3, NLGN4X, NMNAT1, NNT, NOL3, NONO, NOTCH3, NOVA2, NPAP1, NPC1, NPC2, NPHP1, NPHP3, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NRXN3, NSD1, NSDHL, NSUN2, NTNG1, NTNG2, NTRK2, NUBPL, NUP107, NUP133, NUP214, NUS1, OCLN, OCRL, ODC1, OFD1, OGT, OPA1, OPA3, OPHN1, OSGEP, OSTM1, OTC, OTUD6B, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARS2, PAX6, PBX1, PC, PCCA, PCCB, PCDH12, PCDH19, PCDH7, PCDHB4, PCK1, PCLO, PCNT, PCYT2, PDCD10, PDE10A, PDE2A, PDE4D, PDE6D, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHACTR1, PHC1, PHF21A, PHF3, PHF6, PHGDH, PI4KA, PIBF1, PIEZO2, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3AP1, PIK3CA, PIK3R2, PLA2G6, PLAA, PLAGL1, PLCB1, PLEKHG2, PLK4, PLP1, PLXND1, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA8, PNPO, PNPT1, PODXL, POGZ, POLA1, POLE, POLG, POLG2, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, POU3F3, PPA2, PPM1B, PPM1D, PPM1K, PPOX, PPP1R15B, PPP1R3C, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRDX1, PREPL, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKAR1A, PRKAR1B, PRKDC, PRKG2, PRMT7, PRODH, PROP1, PROSC, PRPS1, PRRT2, PRSS12, PRTN3, PRUNE, PSAP, PSAT1, PSMD12, PSPH, PTCH1, PTCHD1, PTEN, PTF1A, PTH, PTPN11, PTPN22, PTPN23, PTPN4, PTPRD, PTRH2, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PVRL1, PYCR2, QARS, QDPR, QRICH1, RAB11A, RAB11B, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAF1, RAI1, RALGAPA1, RALGAPB, RANBP2, RAP1A, RAP1B, RARS2, RASGRP1, RBBP8, RBFOX1, RBFOX3, RBM10, RBM8A, RBPJ, RECQL4, REEP1, RELA, RELN, RERE, RFT1, RGR, RHOBTB2, RILP, RIT1, RLBP1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF168, ROBO1, ROBO3, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS20, RPS6KA3, RREB1, RRM2B, RSRC1, RTN4IP1, RTTN, RYR2, RYR3, SACS, SAMD9, SAMHD1, SARS, SARS2, SASS6, SATB2, SC5D, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN7A, SCN8A, SCNM1, SCO1, SCO2, SCYL2, SDCCAG8, SDHA, SDHAF1, SEC24C, SEC24D, SEMA6B, SEPSECS, SERAC1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SGCE, SGSH, SH2B1, SHANK1, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIN3A, SIX3, SKI, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC25A42, SLC26A1, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC37A4, SLC39A8, SLC45A1, SLC46A1, SLC4A10, SLC5A6, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A5, SLC6A8, SLC7A5, SLC7A7, SLC9A1, SLC9A6, SLC9A7, SLC9A9, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMO, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNIP1, SNRPN, SNX14, SNX27, SON, SOS1, SOX10, SOX11, SOX2, SOX3, SOX4, SOX5, SPAST, SPATA5, SPDL1, SPEN, SPG11, SPG20, SPOP, SPR, SPRED1, SPTAN1, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRPX2, SRSF11, SSR4, SSTR5, ST3GAL3, ST3GAL5, ST5, ST7, ST8SIA2, STAG1, STAG2, STAMBP, STAR, STARD9, STAT1, STAT2, STAT4, STIL, STRA6, STRADA, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, STYXL1, SUCLA2, SUCLG1, SUCO, SUMF1, SUOX, SURF1, SUV420H1, SV2A, SYN1, SYN2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2, TAC3, TACO1, TAF1, TANC2, TANGO2, TAOK1, TAOK2, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX18, TBX19, TCF20, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDGF1, TDP2, TECPR2, TECR, TELO2, TFAP2A, TGDS, TGFBR3, TGIF1, TH, THAP11, THOC2, TIMM50, TIMM8A, TIMMDC1, TK2, TKT, TLK2, TMEM106B, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMLHE, TMTC3, TMX2, TNFRSF11A, TNKS, TNRC6B, TOE1, TP53RK, TPK1, TPP1, TPRKB, TRAF3IP1, TRAF3IP2, TRAF7, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2L, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIM3, TRIM8, TRIO, TRIP12, TRIP13, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM3, TRPM6, TRPS1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHZ3, TSPAN7, TTC19, TUBA1A, TUBA3E, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TXN2, TYMP, TYROBP, UBA5, UBAC2, UBB, UBE2A, UBE3A, UBN2, UBR5, UBTF, UFC1, UFD1L, UFM1, UGDH, UGP2, UMPS, UNC13D, UNC80, UPB1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, USP15, USP18, USP7, USP9X, VAMP2, VANGL1, VARS, VARS2, VCP, VDR, VLDLR, VPS11, VPS13A, VPS13B, VPS51, VPS53, VRK1, WAC, WARS2, WASF1, WDR19, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WIPI2, WWOX, XK, XPA, XPNPEP3, XPR1, XRCC1, YAP1, YWHAE, YWHAG, ZBTB18, ZBTB20, ZC3H14, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZIC2, ZMIZ1, ZMYND11, ZMYND12, ZNF142, ZNF335, ZNF41, ZNF423, ZNF592, ZNF674, ZNF711, ZNF81, ZNHIT3, ZSWIM6

Conditions

  • Creatine Deficiency Syndromes
  • Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
  • Epilepsy and Mental Retardation Limited to Females
  • Epilepsy with Variable Learning and Behavioral Disorders
  • Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
  • Adenylosuccinate Lyase Deficiency
  • Glucose Transporter Type I Deficiency Syndrome
  • Alpers syndrome (Alpers-Huttenlocher syndrome)
  • Lafora Disease
  • Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
  • Angelman syndrome (AS)
  • Mowat-Wilson Syndrome
  • Neuronal Ceroid Lipofuscinoses (NCL)
  • Ohtahara Syndrome
  • Progressive Myoclonic Epilepsy
  • Pyridoxine Dependent Seizures
  • Rett syndrome
  • Atypical Rett Syndrome
  • Unverricht-Lundborg Disease (Baltic Myoclonus)
  • West Syndrome
  • Benign Familial Neonatal-Infantile Seizures (BFNIS)
  • Benign Familial Neonatal Seizures (BFNS)

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

Lab Method

  • Next-Gen Sequencing

Test Code

921

CPT Codes*

81404x4, 81405x2, 81406x2, 81407x1, 81408x2, 81302x1

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.