Neurology Test Menu Update

Available for samples received on/after August 31, 2020

We have updated our neurology test menu to provide more streamlined, up-to-date, and clinically relevant testing options to healthcare providers and patients. Contact your regional Account Executive or Genomic Science Liaison for more information.

New Tests

Test Name	Test Code	Description	Genes
Test Name: EpilepsyNext-Expanded™	Test Code: 6865	Description: >890-gene panel designed to identify causes of seizures primarily with neonatal to childhood onset. Genes included are associated with epilepsy-only disorders, syndromic conditions in which seizures have been reported, as well as treatable metabolic conditions that can include seizures when undiagnosed and/or untreated.	Genes: View all >890 genes Hide all genes AAAS, AARS (AARS1), AASS, ABAT, ABCC8, ABCD1, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACP5, ACSF3, ACTB, ACTG1, ACTL6B, ACVRL1, ACY1, ADAM22, ADARB1, ADAT3, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFG3L2, AGK, AGL, AHCY, AHDC1, AIFM1, AIMP2, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG9, ALMS1, ALPL, AMACR, AMER1, AMPD2, AMT, ANK2, ANKLE2, ANKRD11, ANTXR1, AP1S2, AP3B2, AP4B1, AP3D1, 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, ATXN10, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B4GALNT1, B4GAT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCS1L, BMP4, BOLA3, BRAF, BRAT1, BRPF1, BRSK2, BSCL2, BTD, BUB1B, C10orf2, C12orf57, C19orf70, 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, 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, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, 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, 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, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELAC2, ELOVL4, EMG1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FARS2, FARSB, FAR1, 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, GABRB2, GABRB3, GABRG2, GALC, GALNT2, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GFAP, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLRA1, GLUD1, GM2A, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNE, GNS, GOSR2, GPAA1, GPC3, GPHN, GPSM2, GPT2, GRIA2, GRIA3, 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, HIVEP2, HLCS, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPD, HRAS, HSD17B10, HSD17B4, HTRA2, HUWE1, IARS2, IBA57, IDH2, IDS, IFIH1, IKBKG, IL1RAPL1, INPP5K, IQSEC2, IRF2BPL, ITPA, ITPR1, IVD, JAM3, KANSL1, KARS, KATNB1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM3B, KDM5C, KDM6A, KDM6B, KIAA2022 (NEXMIF), KIF11, KIF2A, KIF5C, KIF7, KLHL7, KMT2B, KMT2D, KMT2E, KMT5B, KPTN, KRIT1, L2HGDH, LAMA2, LAMB1, LAMC3, LBR, LGI1, LGI4, LIAS, LRPPRC, LSS, LYST, LZTFL1, MACF1, MAF, MAGED2, MAGEL2, MAN1B1, MAP1B, MAP2K1, MAP2K2, MAPK8IP3, MAPRE2, MAST1, MBD5, MBOAT7, MCCC1, MCCC2, MECP2, MED12, MED17, MEF2C, METTL23, MFF, MFSD8, MGAT2, MIPEP, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MRAP, MRPS22, MRPS34, MSL3, MSX2, MTFMT, MTO1, MTOR, MTR, MTRR, MYO5A, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, 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, NFIA, NGLY1, NHLRC1, NIPBL, NLRP3, NNT, NPC1, NPC2, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NSD1, NSDHL, NSUN2, NTRK2, NUS1, OCLN, OCRL, OPHN1, OSGEP, OTC, OTUD6B, OXR1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCK1, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP3, PGK1, PHF21A, PHF6, PHGDH, PHKA2, PHKG2, PIGA, PIGB, PIGG, 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, PPP3CA, PPT1, PQBP1, PRF1, PRICKLE1, PRMT7, PRODH, PROP1, PROSC, PRRT2, PRUNE1, PSAP, PSMD12, PTCH1, PTEN, PTPN23, PTS, PUF60, PURA, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB27A, RAB39B, RAC1, RALA, RALGAPA1, RARS2, RBM10, RBM8A, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASET2, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RSRC1, RTN4IP1, RTTN, RYR2, SACS, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCYL2, SDCCAG8, SDHA, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1B, SETD2, SETD5, SFXN4, SGSH, SHANK3, SHH, SIK1, SIN3A, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A20, SLC25A22, SLC25A4, SLC25A42, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC39A8, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCB1, SMC1A, SMG9, SMPD4, SMS, SNAP25, SNX27, SON, SOX2, SPAST, SPATA5, SPTAN1, ST3GAL5, STAG1, STAMBP, STT3A, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TANC2, TANGO2, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX19, TCF4, TDP2, TECPR2, TELO2, TET3, TFE3, THOC2, TIMM50, TK2, TLK2, TMEM5, TMEM70, TMEM94, TMTC3, TMX2, TNFRSF11A, TOE1, TPK1, TPP1 (CLN2), TRAF7, TRAK1, TRAPPC11, TRAPPC6B, TRAPPC9, TREM2, 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, UBTF, UGDH, UGP2, UGT1A1, UNC80, UPF3B, USP7, USP9X, VAMP2, VARS, VARS2, VDR, VPS11, VPS53, WARS2, WASF1, WDR26, WDR4, WDR45, WDR45B, WDR62, WDR73, WFS1, WWOX, YIF1B, ZBTB18, ZC4H2, ZDHHC9, ZEB2, ZIC2, ZNHIT3, ZSWIM6
Test Name:NeurodevelopmentNext™	Test Code: 6861	Description: 202-gene panel including genes accounting for >60% of patients¹ identified to have a genetic cause for a neurodevelopmental disorder including developmental delay, intellectual disability, and/or autism spectrum disorders.	Genes: View all 202 genes Hide all 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 (NEXMIF), 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
Test Name:NeurodevelopmentNext-Expanded™ (Retired Sept. 9, 2022)	Test Code: 6860	Description: >1,400-gene panel including genes with moderate clinical validity and above that are associated with neonatal to childhood onset developmental delay, seizures, intellectual disability, developmental regression, and/or autism spectrum disorders.	Genes: View all >1400 genes Hide all genes AAAS, AARS (AARS1), AARS2, AASS, ABAT, ABCC8, ABCC9, ABCD1, ABCD4, ABL1, ACAD8, ACAD9, ACADM, ACADS, ACADSB, 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, AGPS, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP2, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANK2, ANKLE2, ANKRD11, ANTXR1, AP1B1, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP3D1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP5D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATR, ATRX, ATXN10, AUH, AUTS2, AVP, AVPR2, B3GLCT, B3GALNT2, B3GALT6, B4GALNT1, B4GALT7, B4GALT1, B4GAT1, B9D1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, 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, C2CD3, C19orf70, C5orf42, CA2, CA5A, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMTA1, CAPN10, CARS2, CASK, CASR, CAV1, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDC42BPB, CDC45, CDH11, CDH2, CDK10, CDK13, CDK5RAP2, CDKL5, CDKN1C, CDON, CELF4, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP55, 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, CNOT3, CNTNAP1, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, COX7B, 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, DDX3X, DDX59, 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, DSCAM, DUOX2, DUOXA2, DYM, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, ECHS1, ECM1, EED, EEF1A2, EFL1, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EMG1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, EPRS, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXOSC9, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM20C, FARS2, FARSB, FAR1, 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, FTL, FTCD, FTO, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRB2, GABRB3, GABRG2, GALC, GALE, GALNT2, GALT, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GFAP, GFER, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLUD1, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNE, GNPAT, GNPTAB, GNS, GORAB, GOSR2, GPAA1, GPC3, GPC4, GPC6, GPHN, GPI, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRID2, 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, HIVEP2, HK1, HLCS, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPG2, HTRA2, HUWE1, HYLS1, IARS, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IFIH1, IFT172, IFT27, IGF1, IGF1R, IGF2, IGSF1, IKBKG, IL1RAPL1, INPP5E, INPP5K, INSR, INTS1, IQSEC2, IRF2BPL, IRX5, ISCA2, ISPD, ITPA, ITPR1, IVD, IYD, JAM3, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM3B, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA2022 (NEXMIF), 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, LARP7, LARS2, LBR, LGI1, LGI4, LHX3, LIAS, LIG4, LINS, LIPT1, LMBRD1, LONP1, LRP2, LRPPRC, LSS, LYRM7, LYST, LZTFL1, LZTR1, MAB21L2, MACF1, MAF, MAG, MAGED2, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK8IP3, MAPRE2, MASP1, MAST1, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MCPH1, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MEF2C, MEIS2, METTL23, METTL5, MFF, 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, MTFMT, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAXD, NAXE, NBEA, NBN, NCAPD2, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC1, NHS, NIPBL, NKAP, NKX2-5, NKX6-2, NLGN3, NLGN4X, NLRP3, NNT, NONO, NOVA2, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUP107, NUP188, NUS1, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD6B, OTX2, OXR1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARS2, PAX8, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCK1, PDE10A, PDE4D, PDE6D, PDGFRB, PDHA1, PDHB, PDHX, PDSS2, PEPD, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKG2, PIBF1, PIGA, PIGB, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, 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, PREPL, PRF1, PRICKLE1, PRKAR1A, PRKRA, PRMT7, PRODH, PROP1, PROSC, PRPS1, PRR12, PRRT2, PRUNE1, PSAP, PSMD12, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPN23, PTRH2, PTS, PUF60, PURA, PUS3, PUS7, PYCR1, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAD51, RAF1, RAI1, RALA, RALGAPA1, RARS, RARS2, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, RERE, RFT1, RHOBTB2, RIT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF168, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RYR2, SACS, SAMHD1, SAR1B, SASS6, SATB2, SBDS, SC5D, SCAPER, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SF3B4, SFXN4, SGSH, SHANK2, SHANK3, SHH, SHOC2, SIAH1, SIK1, SIL1, SIM1, SIN3A, SIX3, SKI, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, 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, 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, SPECC1L, SPG20, SPG7, SPOP, SPR, SPRED1, SPTAN1, SPTBN2, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRP54, SSR4, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STT3A, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SUZ12, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TAF1, TAF2, TAF6, TANC2, TANGO2, TAOK1, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX19, TCF12, TCF20, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TELO2, TENM3, TET3, TFE3, THG1L, THOC2, THOC6, THRA, THRB, TIMM50, TIMM8A, TK2, TLK2, TMCO1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMEM8C, TMEM94, TMTC3, TMX2, TNFRSF11A, TNR, TNRC6B, TOE1, TOR1A, TPK1, TPP1 (CLN2), TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM8, TRIO, TRIP12, TRIP4, TRIT1, TRMT1, TRMT10A, 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, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UCHL1, UGDH, UGP2, UGT1A1, UMPS, UNC80, UPB1, UPF3B, USP7, USP9X, VAC14, VAMP2, VARS, VARS2, VDR, VLDLR, VPS11, VPS13B, VPS13C, VPS13D, VPS53, VRK1, WAC, WARS2, WASF1, WASHC5, WDFY3, WDR26, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WNT1, WNT5A, WWOX, XPA, XRCC4, XYLT1, YIF1B, YY1, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYND11, ZNF148, ZNF292, ZNF462, ZNF711, ZNHIT3, ZSWIM6

Updated Tests

Test Name	New Test Code	TAT	Description	New/Removed Genes
Test Name: AutismNext®	New Test Code: 6863	TAT: 2-4 weeks	Description:Now 72-gene panel including genes associated with non-syndromic autism and/or intellectual disability.	New/Removed Genes: Added 48 genes:ACSL4, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD3, CIC, CTNNB1, CTNND2, DLL1, EHMT1, EIF3F, ELP2, FOXP2, FRMPD4, GABRB3, GRIA2, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MED13, OPHN1, PAK3, PHIP, RORB, SETBP1, SETD2, SETD5, SHANK2, SYN1, TANC2, TCF20, TCF7L2, TRIP12, UBE2A, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292 Removed 24 genes:ACSL4, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD3, CIC, CTNNB1, CTNND2, DLL1, EHMT1, EIF3F, ELP2, FOXP2, FRMPD4, GABRB3, GRIA2, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MED13, OPHN1, PAK3, PHIP, RORB, SETBP1, SETD2, SETD5, SHANK2, SYN1, TANC2, TCF20, TCF7L2, TRIP12, UBE2A, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292
Test Name: CustomNext-Neuro™	New Test Code:9545	TAT: 2-4 weeks	Description: Updated, customizable panel that allows providers to select up to 500 genes associated with intellectual disability, autism spectrum disorders, and/or epilepsy to fit the needs of their patient	New/Removed Genes: Choose from any of the >1,400 genes on our neuro menu. Refer to Neurodevelopment-Expanded for the complete list of available genes.
Test Name: EpiRapid®	New Test Code: 6862	TAT: 10-14 days	Description: Now 22 genes associated with epilepsy that may have immediate implications for seizure management.	New/Removed Genes: Added 6 genes: AMT, DDC, GLDC, SCN2A, SLC19A3, SLC6A8
Test Name: EpilepsyNext®	Test Code: 6864	TAT: 2-4 weeks	Description: Now 124-gene panel including 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. Genes on this panel may also have medical management implications.	New/Removed Genes: Added 28 genes: AMT, ANKRD11, ASNS, ATP1A3, BRAT1, CACNA1E, COL4A1, DDC, EHMT1, FOXP1, GLDC, H3F3A, KCNB1, KCNH1, MBD5, MOCS1, MOCS2, NGLY1, PACS1, PHGDH, RHOBTB2, SATB2, SCN3A, SLC19A3, SLC6A8, ST3GAL5, TRIO, TUBA1A Removed 4 genes: CRH, NRXN1, ST3GAL3, SYN1

Retired Tests

Test Name	Test Code	Suggested Replacement/ Alternative Panel(s)
Test Name: CdLSNext	Test Code: 7040	Suggested Replacement/Alternative Panel(s):NeurodevelopmentNext or CustomNext-Neuro
Test Name: EpiFirst-Fever®	Test Code: 7011	Suggested Replacement/Alternative Panel(s): EpilepsyNext
Test Name: EpiFirst-IS®	Test Code: 7013	Suggested Replacement/Alternative Panel(s): EpilepsyNext
Test Name: EpiFirst-Focal®	Test Code: 7017	Suggested Replacement/Alternative Panel(s): EpilepsyNext
Test Name: IDNext®	Test Code: 7027	Suggested Replacement/Alternative Panel(s):For patients with non-syndromic autism or intellectual disability: AutismNext® For patients with syndromic autism or intellectual disability: NeurodevelopmentNext™
Test Name: Neurodevelopment-Expanded®	Test Code: 7028	Suggested Replacement/Alternative Panel(s): NeurodevelopmentNext

Technology Update

Ambry Genetics® neurology panels have been transitioned to whole exome capture with targeted analysis of clinically relevant gene lists. Exome sequencing covers >98% of mutations identified on next generation sequencing panels.² Gross deletion/duplication analysis is included for all genes with sufficient coverage. This technology transition enables routine updates based on proactive review of the current literature and Ambry’s peer reviewed clinical validity scheme to ensure inclusion of the most up-to-date disease-associated genes.³ Additionally, Ambry will now continually review data for patients who have been tested with our neurology panels for potential mutations in newly added genes and proactively issue reclassification reports, as applicable.

Technology Update

	Neuro Panels before August 31, 2020	New Neuro Panels (Whole Exome Capture)
Methodology	Neuro Panels before August 31, 2020: NGS with bait capture	New Neuro Panels (Whole Exome Capture): NGS with bait capture
SNV Coverage	Neuro Panels before August 31, 2020: 99.9%	New Neuro Panels (Whole Exome Capture): 99.7%²
Del/Dup Coverage	Neuro Panels before August 31, 2020: 99.9%	New Neuro Panels (Whole Exome Capture): Varies by gene (Ask your Ambry Genomic Science Liaison for details)
Gene Updates	Neuro Panels before August 31, 2020: Annually or less frequently	New Neuro Panels (Whole Exome Capture): Quarterly
Panel Size	Neuro Panels before August 31, 2020: Limited	New Neuro Panels (Whole Exome Capture): Up to 20,000 genes
Patient-For-Life Program	Neuro Panels before August 31, 2020: Proactive variant level reclassifications for previously reported variants	New Neuro Panels (Whole Exome Capture): Variant and gene level reclassifications for previously reported variants and newly characterized genes³
VUS Reporting	Neuro Panels before August 31, 2020: All VUS reported for each patient	New Neuro Panels (Whole Exome Capture): Opt-in at discretion of ordering provider

References:

Ambry Genetics, internal data on file
LaDuca H, Farwell KD, Vuong H, et al., 2017. PLoS ONE 12(2):e0170843
Smith ED, Radtke K, Rossi M, et al. 2017. Human Mutation 38(5):600-608