Neurology Test Menu - Providers

Code	Test	Genes	TAT
9999	ExomeNext®	Whole Exome	8-12 weeks
9545	CustomNext-Neuro™	Show all > 1530 genes Hide genes AAAS, AARS, AARS2, AASS, ABAT, ABCC8, ABCC9, ABCD1, ABCD4, ABHD16A, ABL1, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACD, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACVRL1, ACY1, ADAM22, ADAMTS10, ADAR, ADARB1, ADAT3, ADCY5, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFF2, AFF4, AFG3L2, AGA, AGK, AGL, AGO1, AGPS, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP2, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANK2, ANK3, ANKLE2, ANKRD11, ANKRD17, ANTXR1, AP1B1, AP1G1, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARPC4, ARSA, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP5A1, ATP5D, ATP5G3, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATR, ATRX, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BDNF, BICD2, BMP4, BMPER, BOLA3, BPTF, BRAF, BRAT1, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C10orf2, C12orf4, C12orf57, C12orf65, C19orf12, C19orf70, C2CD3, C2orf69, C5orf42, CA2, CA5A, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMTA1, CAPN10, CARS2, CASK, CASR, CAV1, CBL, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDC42BPB, CDC45, CDH11, CDH2, CDK10, CDK13, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CELF4, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP55, CEP85L, CHAMP1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CHST14, CHSY1, CIC, CIT, CKAP2L, CLCN4, CLDN16, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNTNAP1, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLEC11, COLGALT1, COPB2, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, COX7B, CPE, CPLX1, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRLF1, CSDE1, CSF1R, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTNNA2, CTNNB1, CTNND2, CTSA, CTSD, CTSF, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYFIP2, CYP27A1, CYP27B1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBH, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDC, DDHD2, DDX11, DDX23, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLG4, DLL1, DLL4, DMXL2, DNA2, DNAJC12, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPYD, DPYS, DPYSL5, DSCAM, DUOX2, DUOXA2, DYM, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, ECHS1, ECM1, EDEM3, EED, EEF1A2, EEF1B2, EFL1, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EMC10, EMG1, EML1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, EPRS, ERBB4, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXOSC9, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM20C, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FDXR, FGD1, FGF12, FGF14, FGF23, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FKRP, FKTN, FLNA, FLNB, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALE, GALNT2, GALT, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GEMIN5, GFAP, GFER, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRA2, GLRB, GLTSCR1, GLUD1, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB2, GNB5, GNE, GNPAT, GNPTAB, GNS, GORAB, GOSR2, GPAA1, GPC3, GPC4, GPC6, GPHN, GPI, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, GUSB, GYS1, H3F3A, H3F3B, HACE1, HADH, HARS, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HIST1H1E, HIST1H4C, HIST1H4E, HIVEP2, HK1, HLCS, HMGB1, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSPG2, HTRA2, HUWE1, HYLS1, IARS, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IFT27, IFT74, IGF1, IGF1R, IGF2, IGSF1, IKBKG, IL1RAPL1, INPP5E, INPP5K, INSR, INTS1, IPO8, IQSEC2, IREB2, IRF2BPL, IRX5, ISCA2, ISPD, ITPA, ITPR1, IVD, IYD, JAM3, JARID2, KANSL1, KARS, KAT6A, KAT6B, KAT8, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCNC3, KCND2, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNJ8, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM3B, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF1BP, KIF2A, KIF5C, KIF7, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARP7, LARS, LARS2, LBR, LGI1, LGI4, LHX3, LIAS, LIG3, LIG4, LINS, LIPT1, LMBRD1, LMNB1, LONP1, LRP2, LRPPRC, LSS, LYRM7, LYST, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAF, MAG, MAGED2, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPRE2, MASP1, MAST1, MAST3, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEIS2, METTL23, METTL5, MFF, MFSD2A, MFSD8, MGAT2, MID1, MIPEP, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPLKIP, MPV17, MRAP, MRAS, MRPS22, MRPS34, MSL3, MSTO1, MSX2, MTCL1, MTFMT, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS, NARS2, NAXD, NAXE, NBEA, NBN, NCAPD2, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEMF, NEU1, NEUROD2, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC1, NHLRC2, NHS, NIPBL, NKAP, NKX2-2, NKX6-2, NLGN1, NLGN3, NLGN4X, NLRP3, NNT, NONO, NOVA2, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSUN2, NSUN3, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUP107, NUP188, NUS1, OCLN, OCRL, ODC1, OFD1, OGDHL, OGT, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD5, OTUD6B, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARS2, PAX5, PAX8, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCGF2, PCK1, PCLO, PCYT2, PDE10A, PDE4D, PDE6D, PDGFRB, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM2L1, PGM3, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKG2, PI4KA, PIBF1, PIDD1, PIGA, PIGB, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PISD, PLA2G6, PLAA, PLCB1, PLK4, PLOD3, PLP1, PMM2, PMPCA, PMPCB, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POGZ, POLA1, POLG, POLR1C, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, PORCN, POU1F1, POU3F3, PPA2, PPARG, PPM1D, PPP1CB, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDX1, PREPL, PRF1, PRICKLE1, PRKAR1A, PRKRA, PRMT7, PROP1, PROSC, PRPS1, PRR12, PRRT2, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPN23, PTPN4, PTRH2, PTS, PUF60, PUM1, PURA, PUS3, PUS7, PYCR1, PYCR2, QARS, QDPR, QRSL1, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAD51, RAF1, RAI1, RALA, RALGAPA1, RARS, RARS2, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, RERE, RFT1, RFX3, RFX7, RHOBTB2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RYR2, SACS, SAMHD1, SAR1B, SASS6, SATB1, SATB2, SBDS, SC5D, SCAF4, SCAMP5, SCAPER, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SF3B2, SF3B4, SFXN4, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SIAH1, SIK1, SIL1, SIM1, SIN3A, SIX3, SKI, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC39A8, SLC46A1, SLC4A4, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG9, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNRPB, SNX14, SNX27, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX5, SOX6, SOX9, SPAST, SPATA5, SPATA5L1, SPECC1L, SPEN, SPG20, SPG7, SPOP, SPR, SPRED1, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRP54, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRADA, STT3A, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TAF1, TAF2, TAF6, TANC2, TANGO2, TAOK1, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D32, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX19, TCF12, TCF20, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TELO2, TENM3, TET3, TFE3, THG1L, THOC2, THOC6, THRA, THRB, TIMM50, TIMM8A, TK2, TLK2, TMCO1, TMEM106B, TMEM107, TMEM138, TMEM216, TMEM222, TMEM231, TMEM237, TMEM240, TMEM5, TMEM63A, TMEM67, TMEM70, TMEM8C, TMEM94, TMTC3, TMX2, TNFRSF11A, TNPO2, TNR, TNRC6B, TOE1, TOR1A, TP73, TPK1, TPP1, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC6B, TRAPPC9, TREX1, TRIM8, TRIO, TRIP12, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT5, TRNT1, TRPM6, TRPS1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSHR, TTC19, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TYROBP, UBA2, UBA5, UBE2A, UBE3A, UBE3B, UBE4A, UBR1, UBTF, UCHL1, UGDH, UGP2, UGT1A1, UMPS, UNC80, UPB1, UPF3B, USP7, USP9X, VAC14, VAMP2, VARS, VARS2, VDR, VLDLR, VPS11, VPS13B, VPS13D, VPS41, VPS4A, VPS53, VRK1, WAC, WARS2, WASF1, WASHC5, WDFY3, WDPCP, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WNT1, WNT5A, WWOX, XPA, XRCC4, XYLT1, YIF1B, YWHAG, YY1, ZBTB18, ZBTB20, ZBTB24, ZBTB7A, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYND11, ZNF142, ZNF148, ZNF292, ZNF462, ZNF526, ZNF711, ZNFX1, ZNHIT3, ZSWIM6	2-4 weeks
6864	EpilepsyNext®	ALDH7A1, AMT, ANKRD11, ARHGEF9, ARX, ASNS, ATP13A2, ATP1A2, ATP1A3, BRAT1, CACNA1A, CACNA1E, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL4A1, CSTB, CTSD, CTSF, DCX, DDC, DEPDC5, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, H3F3A, HCN1, HNRNPU, IQSEC2, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MBD5, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, NGLY1, NHLRC1, PACS1, PCDH19, PHGDH, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, RHOBTB2, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SIK1, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL5, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TRIO, TSC1, TSC2, TUBA1A, UBE3A, WDR45, ZEB2	2-4 weeks
5490	SNP Array	Whole Genome	14-21 days
6862	EpiRapid®	ALDH7A1, AMT, DDC, FOLR1, GLDC, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN2A, SCN8A, SLC19A3, SLC2A1, SLC6A8, STXBP1, TSC1, TSC2	10-14 days
6865	EpilepsyNext-Expanded™	Show all > 960 genes Hide genes AAAS, AARS, AASS, ABAT, ABCC8, ABCD1, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ACOX1, ACP5, ACSF3, ACTB, ACTG1, ACTL6B, ACVRL1, ACY1, ADAM22, ADARB1, ADAT3, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFG3L2, AGK, AGL, AGO1, AHCY, AHDC1, AIFM1, AIMP2, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG9, ALMS1, ALPL, AMACR, AMER1, AMPD2, AMT, ANK2, ANK3, ANKLE2, ANKRD11, ANKRD17, ANTXR1, AP1G1, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOPT1, AQP2, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARL13B, ARMC9, ARSA, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP5D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATR, ATRX, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B4GALNT1, B4GAT1, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCS1L, BMP4, BOLA3, BRAF, BRAT1, BRPF1, BRSK2, BSCL2, BTD, BUB1B, C10orf2, C12orf57, C19orf70, C2orf69, C5orf42, CA5A, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAPN10, CARS2, CASK, CASR, CAV1, CBS, CC2D1A, CC2D2A, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDH2, CDK10, CDK13, CDKL5, CENPJ, CEP85L, CHD2, CHD8, CHKB, CHRNA2, CHRNA4, CHRNB2, CIC, CIT, CKAP2L, CLCN4, CLDN16, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT3, CNTNAP1, CNTNAP2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLGALT1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CPLX1, CPS1, CPT1A, CPT2, CRB2, CRBN, CREBBP, CRLF1, CSDE1, CSF1R, CSNK2B, CSTB, CTC1, CTNNA2, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27B1, D2HGDH, DBH, DBT, DCX, DDC, DDX23, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DLD, DLL1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, EBP, ECHS1, ECM1, EEF1A2, EEF1B2, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELAC2, ELOVL4, EMC10, EMG1, EML1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FBP1, FBXL4, FBXO11, FDXR, FGF12, FGF23, FGFR2, FGFR3, FH, FKTN, FLNA, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXRED1, FRMPD4, FRRS1L, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALNT2, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GFAP, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLRA1, GLRA2, GLRB, GLUD1, GLUL, GM2A, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNE, GNS, GOSR2, GPAA1, GPC3, GPHN, GPSM2, GPT2, GRIA2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, H3F3A, H3F3B, HACE1, HADH, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIST1H4E, HIVEP2, HLCS, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HRAS, HSD17B10, HSD17B4, HTRA2, HUWE1, IARS2, IBA57, IDH2, IDS, IER3IP1, IFIH1, IKBKG, IL1RAPL1, INPP5K, IQSEC2, IRF2BPL, ITPA, ITPR1, IVD, JAM3, KANSL1, KARS, KAT8, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM3B, KDM5C, KDM6A, KDM6B, KIAA2022, KIF11, KIF1A, KIF2A, KIF5C, KIF7, KLHL7, KMT2B, KMT2D, KMT2E, KMT5B, KPTN, KRIT1, L2HGDH, LAMA2, LAMB1, LAMC3, LARS, LBR, LGI1, LGI4, LIAS, LIG3, LMNB1, LRPPRC, LSS, LYST, LZTFL1, MACF1, MADD, MAF, MAGED2, MAGEL2, MAN1B1, MAP1B, MAP2K1, MAP2K2, MAPK8IP3, MAPRE2, MAST1, MAST3, MBD5, MBOAT7, MCCC1, MCCC2, MDH2, MECP2, MED12, MED17, MED27, MEF2C, METTL23, MFF, MFSD8, MGAT2, MIPEP, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MRAP, MRPS22, MRPS34, MSL3, MSX2, MTCL1, MTFMT, MTO1, MTOR, MTR, MTRR, MYO5A, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS, NARS2, NAXD, NAXE, NBEA, NDE1, NDP, NDST1, NDUFA1, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB8, NDUFS1, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NFIA, NGLY1, NHLRC1, NIPBL, NLRP3, NNT, NPC1, NPC2, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NSD1, NSDHL, NSUN2, NTRK2, NUS1, OCLN, OCRL, OGDHL, OPHN1, OSGEP, OTC, OTUD6B, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCK1, PCLO, PCYT2, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP3, PGK1, PGM2L1, PHF21A, PHF6, PHGDH, PHKA2, PHKG2, PI4KA, PIDD1, PIGA, PIGB, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLK4, PLP1, PMM2, PMPCB, PNKP, PNPLA8, PNPO, PNPT1, POLA1, POLG, POLR3A, POU3F3, PPA2, PPARG, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDX1, PRF1, PRICKLE1, PRMT7, PROP1, PROSC, PRRT2, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTEN, PTPN23, PTPN4, PTS, PUF60, PUM1, PURA, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB27A, RAB39B, RAC1, RAC3, RAI1, RALA, RALGAPA1, RARS2, RBM10, RBM8A, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RSRC1, RTN4IP1, RTTN, RYR2, SACS, SAMHD1, SASS6, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCYL2, SDCCAG8, SDHA, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SFXN4, SGSH, SHANK3, SHH, SIK1, SIN3A, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A20, SLC25A22, SLC25A4, SLC25A42, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC39A8, SLC46A1, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCB1, SMC1A, SMG9, SMPD4, SMS, SNAP25, SNX27, SON, SOX2, SPAST, SPATA5, SPATA5L1, SPTAN1, SPTBN1, ST3GAL3, ST3GAL5, STAG1, STAMBP, STRADA, STT3A, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TANC2, TANGO2, TBC1D23, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TBX19, TCF4, TDP2, TECPR2, TELO2, TET3, TFE3, THOC2, TIMM50, TK2, TLK2, TMEM222, TMEM5, TMEM70, TMEM94, TMTC3, TMX2, TNFRSF11A, TNPO2, TOE1, TPK1, TPP1, TRAF7, TRAK1, TRAPPC11, TRAPPC6B, TRAPPC9, TREX1, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TYROBP, UBA5, UBE2A, UBE3A, UBE4A, UBTF, UGDH, UGP2, UGT1A1, UNC80, UPF3B, USP7, USP9X, VAMP2, VARS, VARS2, VDR, VPS11, VPS53, WARS2, WASF1, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WFS1, WWOX, YIF1B, YWHAG, ZBTB18, ZC4H2, ZDHHC9, ZEB2, ZIC2, ZMYND11, ZNF142, ZNF526, ZNHIT3, ZSWIM6	6-8 weeks
9993	ExomeNext-Proband™	Whole Exome	6-8 weeks
9994	ExomeNext-Proband plus mtDNA	Whole Exome	6-8 weeks
9991	ExomeNext-Duo™	Whole Exome	6-8 weeks
9992	ExomeNext-Duo plus mtDNA	Whole Exome	6-8 weeks
9995	ExomeNext-Trio™	Whole Exome	6-8 weeks
9996	ExomeNext-Trio plus mtDNA	Whole Exome	6-8 weeks
4544	FMR1 repeat analysis	FMR1	7-14 days
6863	AutismNext®	ACSL4, ADNP, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD2, CHD3, CHD8, CIC, CREBBP, CTNNB1, CTNND2, DLL1, DYRK1A, EHMT1, EIF3F, ELP2, FMR1, FOXP1, FOXP2, FRMPD4, GABRB3, GRIA2, GRIA3, GRIN2B, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MECP2, MED12, MED13, MEF2C, NLGN3, NLGN4X, OPHN1, PAK3, PHIP, POGZ, PTCHD1, PTEN, RAB39B, RAI1, RORB, SETBP1, SETD2, SETD5, SHANK2, SHANK3, SYN1, TANC2, TBR1, TCF20, TCF7L2, TRIP12, TSC1, TSC2, UBE2A, UPF3B, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292	2-4 weeks
6861	NeurodevelopmentNext™	Show all 202 genes Hide genes ABCD1, ACTB, ACTG1, ADNP, AHCY, AHDC1, ANK2, ANKRD11, ARHGEF9, ARID1A, ARID1B, ARID2, ARX, ASPM, ASXL1, ASXL3, ATP13A2, ATP1A3, ATP7A, ATRX, AUTS2, BCL11A, BCL11B, BRAF, BRAT1, BRPF1, CACNA1A, CAMK2B, CASK, CBL, CC2D1A, CC2D2A, CDK13, CDKL5, CEP290, CHD2, CHD3, CHD7, CHD8, CIC, CLCN4, CNTNAP2, COL4A1, CREBBP, CSNK2A1, CSNK2B, CTCF, CTNNB1, CUL4B, DDC, DDX3X, DEAF1, DHCR7, DHX30, DLG3, DNM1, DNMT3A, DPF2, DYNC1H1, DYRK1A, EBF3, EEF1A2, EFTUD2, EHMT1, EP300, FBXL4, FDXR, FGD1, FLNA, FMR1, FOXG1, GABRG2, GAMT, GATAD2B, GNAO1, GNB1, GRIA3, GRIN1, GRIN2A, GRIN2B, H3F3A, HDAC8, HECW2, HIST1H1E, HIVEP2, HNRNPH2, HNRNPK, HNRNPU, HRAS, HUWE1, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KCNB1, KCNQ2, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA2022, KIF1A, KMT2A, KMT2B, KMT2D, KMT2E, KMT5B, KRAS, LZTR1, MAGEL2, MAP2K1, MAP2K2, MAPK8IP3, MBD5, MECP2, MED12, MED13L, METTL23, MRAS, MTOR, NAA15, NALCN, NF1, NFIA, NIPBL, NPC1, NR2F1, NRAS, NSD1, OTC, PACS1, PDHA1, PHF6, PMM2, POGZ, POLR2A, POU3F3, PPM1D, PPP1CB, PPP2R5D, PQBP1, PTEN, PTPN11, PUF60, PURA, RAD21, RAF1, RAI1, RERE, RIT1, RPS6KA3, SATB2, SCN1A, SCN2A, SCN3A, SCN8A, SETBP1, SETD2, SETD5, SHANK3, SHOC2, SIN3A, SLC16A2, SLC2A1, SLC6A1, SLC6A8, SMARCA2, SMARCA4, SMC1A, SMC3, SON, SOS1, SOS2, SOX5, SPAST, STAG1, STAG2, STXBP1, SURF1, SYNGAP1, TBL1XR1, TCF20, TCF4, TRAPPC9, TRIO, TRIP12, TRRAP, TSC1, TSC2, TUBA1A, TUBB, UBE3A, USP9X, VPS13B, WAC, WDR45, ZBTB18, ZBTB20, ZEB2, ZMYND11, ZNF292	2-4 weeks
9024	NF2 seq and del/dup	NF2	14-21 days
7180	SMARCB1 seq and del/dup	SMARCB1	14-21 days
5724	SPRED1 seq and del/dup	SPRED1	14-21 days
2606	VHL seq and del/dup	VHL	14-21 days
9014	ATM seq and del/dup	ATM	14-21 days
2866	TP53 seq and del/dup	TP53	14-21 days
5904	TSC1/2 seq and del/dup	TSC1, TSC2	14-21 days
8672	HHTNext®	ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4	14-21 days
5684	PTCH1 seq and del/dup	PTCH1	14-21 days
8847	BrainTumorNext®	AIP, ALK, APC, CDKN1B, CDKN2A, DICER1, EPCAM, LZTR1, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL	14-21 days
6866	Familial Hemiplegic Migraine	ATP1A2, ATP1A3, CACNA1A, PRRT2, SCN1A, SLC1A3, SLC2A1	2-4 weeks
6867	Movement Disorders + Hypotonia Panel	AARS, ABAT, ADCY5, ALDH5A1, ALDH7A1, AMT, AP1S2, ARHGEF9, ATP1A2, ATP1A3, ATP7B, BCKDHA, BCKDHB, COASY, DBT, DDC, DDX3X, DLD, DNAJC12, DNM1, EIF2AK2, ELP2, GAMT, GCDH, GCH1, GLDC, GLRA1, GLRB, GNAO1, GNB1, HPRT1, KCNB1, KCNMA1, KMT2B, MECR, MYBPC1, NBEA, NGLY1, NTNG2, PANK2, PCCA, PCCB, PDE10A, PGAP1, PLA2G6, PNKD, PNPO, PNPT1, PRRT2, PTS, QDPR, RHOBTB2, SCN2A, SCN8A, SERAC1, SGCE, SLC16A2, SLC17A5, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SPR, SYT1, TET3, TH, TNR, TOR1A, TUBB4A, UBTF, VAC14, VAMP2, VPS13D, WARS2, WDR45, WDR73, YIF1B	14-21 days

Code

Test

Genes

TAT

9999

ExomeNext®

Whole Exome

8-12 weeks

9545

CustomNext-Neuro™

Show all > 1530 genes AAAS, AARS, AARS2, AASS, ABAT, ABCC8, ABCC9, ABCD1, ABCD4, ABHD16A, ABL1, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACD, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACVRL1, ACY1, ADAM22, ADAMTS10, ADAR, ADARB1, ADAT3, ADCY5, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFF2, AFF4, AFG3L2, AGA, AGK, AGL, AGO1, AGPS, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP2, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANK2, ANK3, ANKLE2, ANKRD11, ANKRD17, ANTXR1, AP1B1, AP1G1, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARPC4, ARSA, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP5A1, ATP5D, ATP5G3, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATR, ATRX, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BDNF, BICD2, BMP4, BMPER, BOLA3, BPTF, BRAF, BRAT1, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C10orf2, C12orf4, C12orf57, C12orf65, C19orf12, C19orf70, C2CD3, C2orf69, C5orf42, CA2, CA5A, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMTA1, CAPN10, CARS2, CASK, CASR, CAV1, CBL, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDC42BPB, CDC45, CDH11, CDH2, CDK10, CDK13, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CELF4, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP55, CEP85L, CHAMP1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CHST14, CHSY1, CIC, CIT, CKAP2L, CLCN4, CLDN16, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNTNAP1, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLEC11, COLGALT1, COPB2, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, COX7B, CPE, CPLX1, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRLF1, CSDE1, CSF1R, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTNNA2, CTNNB1, CTNND2, CTSA, CTSD, CTSF, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYFIP2, CYP27A1, CYP27B1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBH, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDC, DDHD2, DDX11, DDX23, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLG4, DLL1, DLL4, DMXL2, DNA2, DNAJC12, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPYD, DPYS, DPYSL5, DSCAM, DUOX2, DUOXA2, DYM, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, ECHS1, ECM1, EDEM3, EED, EEF1A2, EEF1B2, EFL1, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EMC10, EMG1, EML1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, EPRS, ERBB4, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXOSC9, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM20C, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FDXR, FGD1, FGF12, FGF14, FGF23, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FKRP, FKTN, FLNA, FLNB, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALE, GALNT2, GALT, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GEMIN5, GFAP, GFER, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRA2, GLRB, GLTSCR1, GLUD1, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB2, GNB5, GNE, GNPAT, GNPTAB, GNS, GORAB, GOSR2, GPAA1, GPC3, GPC4, GPC6, GPHN, GPI, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, GUSB, GYS1, H3F3A, H3F3B, HACE1, HADH, HARS, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HIST1H1E, HIST1H4C, HIST1H4E, HIVEP2, HK1, HLCS, HMGB1, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSPG2, HTRA2, HUWE1, HYLS1, IARS, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IFT27, IFT74, IGF1, IGF1R, IGF2, IGSF1, IKBKG, IL1RAPL1, INPP5E, INPP5K, INSR, INTS1, IPO8, IQSEC2, IREB2, IRF2BPL, IRX5, ISCA2, ISPD, ITPA, ITPR1, IVD, IYD, JAM3, JARID2, KANSL1, KARS, KAT6A, KAT6B, KAT8, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCNC3, KCND2, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNJ8, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM3B, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF1BP, KIF2A, KIF5C, KIF7, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARP7, LARS, LARS2, LBR, LGI1, LGI4, LHX3, LIAS, LIG3, LIG4, LINS, LIPT1, LMBRD1, LMNB1, LONP1, LRP2, LRPPRC, LSS, LYRM7, LYST, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAF, MAG, MAGED2, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPRE2, MASP1, MAST1, MAST3, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEIS2, METTL23, METTL5, MFF, MFSD2A, MFSD8, MGAT2, MID1, MIPEP, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPLKIP, MPV17, MRAP, MRAS, MRPS22, MRPS34, MSL3, MSTO1, MSX2, MTCL1, MTFMT, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS, NARS2, NAXD, NAXE, NBEA, NBN, NCAPD2, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEMF, NEU1, NEUROD2, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC1, NHLRC2, NHS, NIPBL, NKAP, NKX2-2, NKX6-2, NLGN1, NLGN3, NLGN4X, NLRP3, NNT, NONO, NOVA2, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSUN2, NSUN3, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUP107, NUP188, NUS1, OCLN, OCRL, ODC1, OFD1, OGDHL, OGT, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD5, OTUD6B, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARS2, PAX5, PAX8, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCGF2, PCK1, PCLO, PCYT2, PDE10A, PDE4D, PDE6D, PDGFRB, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM2L1, PGM3, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKG2, PI4KA, PIBF1, PIDD1, PIGA, PIGB, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PISD, PLA2G6, PLAA, PLCB1, PLK4, PLOD3, PLP1, PMM2, PMPCA, PMPCB, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POGZ, POLA1, POLG, POLR1C, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, PORCN, POU1F1, POU3F3, PPA2, PPARG, PPM1D, PPP1CB, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDX1, PREPL, PRF1, PRICKLE1, PRKAR1A, PRKRA, PRMT7, PROP1, PROSC, PRPS1, PRR12, PRRT2, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPN23, PTPN4, PTRH2, PTS, PUF60, PUM1, PURA, PUS3, PUS7, PYCR1, PYCR2, QARS, QDPR, QRSL1, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAD51, RAF1, RAI1, RALA, RALGAPA1, RARS, RARS2, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, RERE, RFT1, RFX3, RFX7, RHOBTB2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RYR2, SACS, SAMHD1, SAR1B, SASS6, SATB1, SATB2, SBDS, SC5D, SCAF4, SCAMP5, SCAPER, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SF3B2, SF3B4, SFXN4, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SIAH1, SIK1, SIL1, SIM1, SIN3A, SIX3, SKI, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC39A8, SLC46A1, SLC4A4, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG9, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNRPB, SNX14, SNX27, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX5, SOX6, SOX9, SPAST, SPATA5, SPATA5L1, SPECC1L, SPEN, SPG20, SPG7, SPOP, SPR, SPRED1, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRP54, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRADA, STT3A, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TAF1, TAF2, TAF6, TANC2, TANGO2, TAOK1, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D32, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX19, TCF12, TCF20, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TELO2, TENM3, TET3, TFE3, THG1L, THOC2, THOC6, THRA, THRB, TIMM50, TIMM8A, TK2, TLK2, TMCO1, TMEM106B, TMEM107, TMEM138, TMEM216, TMEM222, TMEM231, TMEM237, TMEM240, TMEM5, TMEM63A, TMEM67, TMEM70, TMEM8C, TMEM94, TMTC3, TMX2, TNFRSF11A, TNPO2, TNR, TNRC6B, TOE1, TOR1A, TP73, TPK1, TPP1, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC6B, TRAPPC9, TREX1, TRIM8, TRIO, TRIP12, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT5, TRNT1, TRPM6, TRPS1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSHR, TTC19, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TYROBP, UBA2, UBA5, UBE2A, UBE3A, UBE3B, UBE4A, UBR1, UBTF, UCHL1, UGDH, UGP2, UGT1A1, UMPS, UNC80, UPB1, UPF3B, USP7, USP9X, VAC14, VAMP2, VARS, VARS2, VDR, VLDLR, VPS11, VPS13B, VPS13D, VPS41, VPS4A, VPS53, VRK1, WAC, WARS2, WASF1, WASHC5, WDFY3, WDPCP, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WNT1, WNT5A, WWOX, XPA, XRCC4, XYLT1, YIF1B, YWHAG, YY1, ZBTB18, ZBTB20, ZBTB24, ZBTB7A, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYND11, ZNF142, ZNF148, ZNF292, ZNF462, ZNF526, ZNF711, ZNFX1, ZNHIT3, ZSWIM6

2-4 weeks

6864

EpilepsyNext®

ALDH7A1, AMT, ANKRD11, ARHGEF9, ARX, ASNS, ATP13A2, ATP1A2, ATP1A3, BRAT1, CACNA1A, CACNA1E, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL4A1, CSTB, CTSD, CTSF, DCX, DDC, DEPDC5, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, H3F3A, HCN1, HNRNPU, IQSEC2, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MBD5, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, NGLY1, NHLRC1, PACS1, PCDH19, PHGDH, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, RHOBTB2, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SIK1, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL5, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TRIO, TSC1, TSC2, TUBA1A, UBE3A, WDR45, ZEB2

2-4 weeks

5490

SNP Array

Whole Genome

14-21 days

6862

EpiRapid®

ALDH7A1, AMT, DDC, FOLR1, GLDC, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN2A, SCN8A, SLC19A3, SLC2A1, SLC6A8, STXBP1, TSC1, TSC2

10-14 days

6865

EpilepsyNext-Expanded™

Show all > 960 genes AAAS, AARS, AASS, ABAT, ABCC8, ABCD1, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ACOX1, ACP5, ACSF3, ACTB, ACTG1, ACTL6B, ACVRL1, ACY1, ADAM22, ADARB1, ADAT3, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFG3L2, AGK, AGL, AGO1, AHCY, AHDC1, AIFM1, AIMP2, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG9, ALMS1, ALPL, AMACR, AMER1, AMPD2, AMT, ANK2, ANK3, ANKLE2, ANKRD11, ANKRD17, ANTXR1, AP1G1, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOPT1, AQP2, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARL13B, ARMC9, ARSA, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP5D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATR, ATRX, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B4GALNT1, B4GAT1, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCS1L, BMP4, BOLA3, BRAF, BRAT1, BRPF1, BRSK2, BSCL2, BTD, BUB1B, C10orf2, C12orf57, C19orf70, C2orf69, C5orf42, CA5A, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAPN10, CARS2, CASK, CASR, CAV1, CBS, CC2D1A, CC2D2A, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDH2, CDK10, CDK13, CDKL5, CENPJ, CEP85L, CHD2, CHD8, CHKB, CHRNA2, CHRNA4, CHRNB2, CIC, CIT, CKAP2L, CLCN4, CLDN16, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT3, CNTNAP1, CNTNAP2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLGALT1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CPLX1, CPS1, CPT1A, CPT2, CRB2, CRBN, CREBBP, CRLF1, CSDE1, CSF1R, CSNK2B, CSTB, CTC1, CTNNA2, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27B1, D2HGDH, DBH, DBT, DCX, DDC, DDX23, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DLD, DLL1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, EBP, ECHS1, ECM1, EEF1A2, EEF1B2, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELAC2, ELOVL4, EMC10, EMG1, EML1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FBP1, FBXL4, FBXO11, FDXR, FGF12, FGF23, FGFR2, FGFR3, FH, FKTN, FLNA, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXRED1, FRMPD4, FRRS1L, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALNT2, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GFAP, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLRA1, GLRA2, GLRB, GLUD1, GLUL, GM2A, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNE, GNS, GOSR2, GPAA1, GPC3, GPHN, GPSM2, GPT2, GRIA2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, H3F3A, H3F3B, HACE1, HADH, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIST1H4E, HIVEP2, HLCS, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HRAS, HSD17B10, HSD17B4, HTRA2, HUWE1, IARS2, IBA57, IDH2, IDS, IER3IP1, IFIH1, IKBKG, IL1RAPL1, INPP5K, IQSEC2, IRF2BPL, ITPA, ITPR1, IVD, JAM3, KANSL1, KARS, KAT8, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM3B, KDM5C, KDM6A, KDM6B, KIAA2022, KIF11, KIF1A, KIF2A, KIF5C, KIF7, KLHL7, KMT2B, KMT2D, KMT2E, KMT5B, KPTN, KRIT1, L2HGDH, LAMA2, LAMB1, LAMC3, LARS, LBR, LGI1, LGI4, LIAS, LIG3, LMNB1, LRPPRC, LSS, LYST, LZTFL1, MACF1, MADD, MAF, MAGED2, MAGEL2, MAN1B1, MAP1B, MAP2K1, MAP2K2, MAPK8IP3, MAPRE2, MAST1, MAST3, MBD5, MBOAT7, MCCC1, MCCC2, MDH2, MECP2, MED12, MED17, MED27, MEF2C, METTL23, MFF, MFSD8, MGAT2, MIPEP, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MRAP, MRPS22, MRPS34, MSL3, MSX2, MTCL1, MTFMT, MTO1, MTOR, MTR, MTRR, MYO5A, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS, NARS2, NAXD, NAXE, NBEA, NDE1, NDP, NDST1, NDUFA1, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB8, NDUFS1, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NFIA, NGLY1, NHLRC1, NIPBL, NLRP3, NNT, NPC1, NPC2, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NSD1, NSDHL, NSUN2, NTRK2, NUS1, OCLN, OCRL, OGDHL, OPHN1, OSGEP, OTC, OTUD6B, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCK1, PCLO, PCYT2, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP3, PGK1, PGM2L1, PHF21A, PHF6, PHGDH, PHKA2, PHKG2, PI4KA, PIDD1, PIGA, PIGB, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLK4, PLP1, PMM2, PMPCB, PNKP, PNPLA8, PNPO, PNPT1, POLA1, POLG, POLR3A, POU3F3, PPA2, PPARG, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDX1, PRF1, PRICKLE1, PRMT7, PROP1, PROSC, PRRT2, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTEN, PTPN23, PTPN4, PTS, PUF60, PUM1, PURA, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB27A, RAB39B, RAC1, RAC3, RAI1, RALA, RALGAPA1, RARS2, RBM10, RBM8A, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RSRC1, RTN4IP1, RTTN, RYR2, SACS, SAMHD1, SASS6, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCYL2, SDCCAG8, SDHA, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SFXN4, SGSH, SHANK3, SHH, SIK1, SIN3A, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A20, SLC25A22, SLC25A4, SLC25A42, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC39A8, SLC46A1, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCB1, SMC1A, SMG9, SMPD4, SMS, SNAP25, SNX27, SON, SOX2, SPAST, SPATA5, SPATA5L1, SPTAN1, SPTBN1, ST3GAL3, ST3GAL5, STAG1, STAMBP, STRADA, STT3A, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TANC2, TANGO2, TBC1D23, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TBX19, TCF4, TDP2, TECPR2, TELO2, TET3, TFE3, THOC2, TIMM50, TK2, TLK2, TMEM222, TMEM5, TMEM70, TMEM94, TMTC3, TMX2, TNFRSF11A, TNPO2, TOE1, TPK1, TPP1, TRAF7, TRAK1, TRAPPC11, TRAPPC6B, TRAPPC9, TREX1, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TYROBP, UBA5, UBE2A, UBE3A, UBE4A, UBTF, UGDH, UGP2, UGT1A1, UNC80, UPF3B, USP7, USP9X, VAMP2, VARS, VARS2, VDR, VPS11, VPS53, WARS2, WASF1, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WFS1, WWOX, YIF1B, YWHAG, ZBTB18, ZC4H2, ZDHHC9, ZEB2, ZIC2, ZMYND11, ZNF142, ZNF526, ZNHIT3, ZSWIM6

6-8 weeks

9993

ExomeNext-Proband™

Whole Exome

6-8 weeks

9994

ExomeNext-Proband plus mtDNA

Whole Exome

6-8 weeks

9991

ExomeNext-Duo™

Whole Exome

6-8 weeks

9992

ExomeNext-Duo plus mtDNA

Whole Exome

6-8 weeks

9995

ExomeNext-Trio™

Whole Exome

6-8 weeks

9996

ExomeNext-Trio plus mtDNA

Whole Exome

6-8 weeks

4544

FMR1 repeat analysis

FMR1

7-14 days

6863

AutismNext®

ACSL4, ADNP, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD2, CHD3, CHD8, CIC, CREBBP, CTNNB1, CTNND2, DLL1, DYRK1A, EHMT1, EIF3F, ELP2, FMR1, FOXP1, FOXP2, FRMPD4, GABRB3, GRIA2, GRIA3, GRIN2B, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MECP2, MED12, MED13, MEF2C, NLGN3, NLGN4X, OPHN1, PAK3, PHIP, POGZ, PTCHD1, PTEN, RAB39B, RAI1, RORB, SETBP1, SETD2, SETD5, SHANK2, SHANK3, SYN1, TANC2, TBR1, TCF20, TCF7L2, TRIP12, TSC1, TSC2, UBE2A, UPF3B, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292

2-4 weeks

6861

NeurodevelopmentNext™

Show all 202 genes

2-4 weeks

9024

NF2 seq and del/dup

NF2

14-21 days

7180

SMARCB1 seq and del/dup

SMARCB1

14-21 days

5724

SPRED1 seq and del/dup

SPRED1

14-21 days

2606

VHL seq and del/dup

VHL

14-21 days

9014

ATM seq and del/dup

ATM

14-21 days

2866

TP53 seq and del/dup

TP53

14-21 days

5904

TSC1/2 seq and del/dup

TSC1, TSC2

14-21 days

8672

HHTNext®

ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4

14-21 days

5684

PTCH1 seq and del/dup

PTCH1

14-21 days

8847

BrainTumorNext®

AIP, ALK, APC, CDKN1B, CDKN2A, DICER1, EPCAM, LZTR1, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

14-21 days

6866

Familial Hemiplegic Migraine

ATP1A2, ATP1A3, CACNA1A, PRRT2, SCN1A, SLC1A3, SLC2A1

2-4 weeks

6867

Movement Disorders + Hypotonia Panel

AARS, ABAT, ADCY5, ALDH5A1, ALDH7A1, AMT, AP1S2, ARHGEF9, ATP1A2, ATP1A3, ATP7B, BCKDHA, BCKDHB, COASY, DBT, DDC, DDX3X, DLD, DNAJC12, DNM1, EIF2AK2, ELP2, GAMT, GCDH, GCH1, GLDC, GLRA1, GLRB, GNAO1, GNB1, HPRT1, KCNB1, KCNMA1, KMT2B, MECR, MYBPC1, NBEA, NGLY1, NTNG2, PANK2, PCCA, PCCB, PDE10A, PGAP1, PLA2G6, PNKD, PNPO, PNPT1, PRRT2, PTS, QDPR, RHOBTB2, SCN2A, SCN8A, SERAC1, SGCE, SLC16A2, SLC17A5, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SPR, SYT1, TET3, TH, TNR, TOR1A, TUBB4A, UBTF, VAC14, VAMP2, VPS13D, WARS2, WDR45, WDR73, YIF1B

14-21 days

Highlighted Tests
- why choose ambry
  
  A comprehensive neurological genetic test panel can help families find answers quickly and potentially guide them toward the best care for their child. The freedom that comes with these answers can help end the diagnostic odyssey, avoiding alternate and potentially invasive testing, offering the chance for an improved quality of life. It can also help healthcare providers predict medical risks that may be associated with the condition and may offer a chance to implement life-giving interventions. The sooner we can uncover the source of the condition the sooner we can work towards a treatment. In times like this a parents’ world comes to a standstill. Finding answers becomes critical.
  
  Choose from one of our more frequently ordered tests listed below.
  
  ExomeNext®
  
  The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing all 20,000 genes which has been successful in ending the diagnostic odyssey for 30% of undiagnosed patients. ExomeNext is uniquely positioned to analyze genes that are both related to and outside of the clinician’s differential diagnoses.
  
  CustomNext-Neuro™
  
  CustomNext-Neuro gives you the flexibility to choose up to 500 genes from our neurology menu associated with intellectual disability, autism spectrum disorders, and/or epilepsy so you can design a test that best fits the needs of your patient to find a clear diagnosis and inform medical management.
  
  EpilepsyNext®
  
  Identifying an underlying genetic cause for a patient’s epilepsy can provide a clear diagnosis, inform personalized medical management, and identify at-risk relatives. EpilepsyNext includes 124 genes accounting for approximately 60% of patients identified to have genetic epilepsies such as Dravet syndrome, epileptic encephalopathy, non-lesional focal epilepsy, and febrile-related seizures.
  
  SNP Array
  
  SNP Array (chromosomal microarray) is useful for identifying slight variation and is recommended as a first-tier genetic test. It is often used in the postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability and autism spectrum disorders. As a cost-effective approach for other diagnoses including chronic kidney disease, congenital heart defects, and infantile spasms, our SNP Array is your first line of defense when it comes to identifying these disorders.

Epilepsy

Epilepsy Panels

Epilepsy

Epilepsy Panels

Name	TAT	Genes
EpiRapid®	10-14 days	22
EpilepsyNext®	2-4 weeks	124
EpilepsyNext-Expanded™	6-8 weeks	965

Comprehensive Testing

Epilepsy

Comprehensive Testing

Name	TAT	Genes
CustomNext-Neuro™	2-4 weeks	1537
ExomeNext-Proband™	6-8 weeks	~ 20,000 Genes
ExomeNext-Proband plus mtDNA	6-8 weeks	~ 20,000 Genes
ExomeNext-Duo™	6-8 weeks	~ 20,000 Genes
ExomeNext-Duo plus mtDNA	6-8 weeks	~ 20,000 Genes
ExomeNext-Trio™	6-8 weeks	~ 20,000 Genes
ExomeNext-Trio plus mtDNA	6-8 weeks	~ 20,000 Genes
SNP Array	14-21 days	Whole Genome

Neurodevelopment

Single Gene Test

Neurodevelopment

Single Gene Test

Name	TAT	Genes
FMR1	7-14 days	1

Comprehensive Testing

Neurodevelopment

Comprehensive Testing

Name	TAT	Genes
AutismNext®	2-4 weeks	72
NeurodevelopmentNext™	2-4 weeks	202
ExomeNext-Proband™	6-8 weeks	~ 20,000 Genes
ExomeNext-Proband plus mtDNA	6-8 weeks	~ 20,000 Genes
ExomeNext-Duo™	6-8 weeks	~ 20,000 Genes
ExomeNext-Duo plus mtDNA	6-8 weeks	~ 20,000 Genes
ExomeNext-Trio™	6-8 weeks	~ 20,000 Genes
ExomeNext-Trio plus mtDNA	6-8 weeks	~ 20,000 Genes
SNP Array	14-21 days	Whole Genome

Neurocutaneous / NeuroOncology

Single Gene Tests

Neurocutaneous / NeuroOncology

Single Gene Tests

Name	TAT	Genes
Neurofibromatosis 2 (NF2)	14-21 days	1
Schwannomatosis	14-21 days	1
Legius syndrome	14-21 days	1
von Hippel-Lindau(VHL) disease	14-21 days	1
Ataxia-telangiectasia (AT)	14-21 days	1
Li-Fraumeni syndrome	14-21 days	1

Targeted Panels

Neurocutaneous / NeuroOncology

Targeted Panels

Name	TAT	Genes
Tuberous sclerosis complex (TSC)	14-21 days	2
Hereditary hemorrhagic telangiectasia (HHT)	14-21 days	6
Nevoid basal cell carcinoma (Gorlin syndrome)	14-21 days	1

Comprehensive Testing

Neurocutaneous / NeuroOncology

Comprehensive Testing

Name	TAT	Genes
BrainTumorNext®	14-21 days	29

Familial Hemiplegic Migraine

Targeted Panels

Name	TAT	Genes
Familial Hemiplegic Migraine	2-4 weeks	7

Movement Disorders

Movement Disorder Panels

Name	TAT	Genes
Movement Disorders + Hypotonia Panel	14-21 days	81

Exome & Microarray

Comprehensive Testing

Name	TAT	Genes
ExomeNext-Proband™	6-8 weeks	~ 20,000 Genes
ExomeNext-Proband plus mtDNA	6-8 weeks	~ 20,000 Genes
ExomeNext-Duo™	6-8 weeks	~ 20,000 Genes
ExomeNext-Duo plus mtDNA	6-8 weeks	~ 20,000 Genes
ExomeNext-Trio™	6-8 weeks	~ 20,000 Genes
ExomeNext-Trio plus mtDNA	6-8 weeks	~ 20,000 Genes
SNP Array	14-21 days	Whole Genome

Neurology

Epilepsy Panels

Comprehensive Testing

Single Gene Test

Comprehensive Testing

Single Gene Tests

Targeted Panels

Comprehensive Testing

Targeted Panels

Movement Disorder Panels

Comprehensive Testing

Epilepsy

Epilepsy Panels

Epilepsy

Comprehensive Testing

Neurodevelopment

Single Gene Test

Neurodevelopment

Comprehensive Testing

Neurocutaneous / NeuroOncology

Single Gene Tests

Neurocutaneous / NeuroOncology

Targeted Panels

Neurocutaneous / NeuroOncology

Comprehensive Testing

Familial Hemiplegic Migraine

Targeted Panels

Movement Disorders

Movement Disorder Panels

Exome & Microarray

Comprehensive Testing

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