EPIC Test Compendium Alpha
Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.

EpiXpanded Panel

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms Epi Trio
Cerner Primary MnemonicEpiXpanded Panel
EPIC Display NameEpiXpanded Panel
Allscripts (AEHR) Order Name

EpiXpanded Panel

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results EpiXpanded Panel Sequence Analysis
Clinical Info

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 GeneDX code 921

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing Genes AAAS, AARS1, 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, ADCK4, ADD3, ADGRG1, ADK, ADNP, ADPRS, 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, 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, ATP5F1A, ATP5F1D, ATP5F1E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATPAF2, ATR, ATRIP, ATRX, AUH, AUTS2, AVPR2, B3GALNT2, B3GALTL, B4GALT1, 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, C11ORF95, C12ORF57, C12ORF65, C2CD3, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CACNG2, CAD, CALM1, CAMK2A, CAMK2B, CAMKMT, CAMTA1, CARS1, CARS2, CASK, CASP10, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC141, CCDC88A, CCDC88C, CCM2, CCND2, CCNQ, 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, CERT1, CHAMP1, CHAT, CHD1, CHD1L, CHD2, CHD4, CHD7, CHD8, CHKB, CHL1, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CILK1, 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, COA8, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL13A1, COL18A1, COL4A1, COL4A2, COLGALT1, COMT, COPB2, COQ2, COQ4, COQ5, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX6B1, COX7B, COX8A, CPA6, CPLANE1, CPLX1, CPOX, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRELD1, CRH, CRHR1, CRIPT, CRKL, CRLF1, CRPPA, CSF1R, CSMD1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTH, CTNNA2, CTNNB1, CTNND2, CTR9, CTSA, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX1, CUX2, CXCR4, 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, EPRS1, 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, FAR1, FARS2, FARSB, FASLG, FASN, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FBXO28, FBXO31, FBXW11, FBXW7, FCSK, 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, FUCA1, 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, GUCY1A1, 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, HTRA2, HUWE1, HYLS1, IARS1, IBA57, 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, ITGB6, ITPA, ITPR1, IVD, JAM3, JMJD1C, KANK1, KANSL1, KARS1, KAT2B, KAT6A, KAT6B, KAT8, KATNB1, KATNIP, 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, KIAA0226, KIAA0586, KIAA0753, KIAA1109, KIF11, KIF1A, KIF2A, KIF4A, KIF5A, KIF7, KIFBP, KIRREL3, KISS1, KLF13, KLHL15, KLHL7, KLLN, KLRC4, KMT2A (MLL), KMT2C, KMT2D, KMT2E, KPNA7, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAGE3, LAMA2, LAMB1, LAMC3, LARGE1, LARS1, LARS2, LAS1L, LBR, LEO1, LETM1, LGI1, LGI4, LHX1, LIAS, LIG4, LIMK1, LINGO1, LIPT1, LIPT2, LMAN2L, LMBRD1, LMNB2, LNPK, 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, MICOS13, MID1, MID2, MIPEP, MKS1, MLC1, MLLT3, MLX, MLYCD, MMAA, MMACHC, MMADHC, MMUT, MN1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPDZ, MPLKIP, MPP7, MPV17, MRAP, MRI1, MRM2, MRPL12, MRPL44, MRPS16, MRPS22, MSL3, MSX2, MTFMT, MTHFS, MTO1, MTOR, MTPAP, MTR, MTRR, MVK, MYH1, MYH3, MYO1H, MYO5A, MYO7B, MYO9A, MYOCD, MYRF, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS1, NARS2, NAT8L, NAXD, NAXE, NBAS, NBEA, NCAPD3, NCOR1, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEK1, NEK9, NELFA, NEU1, NEUROD2, NEXMIF, 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, NSD2, 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, PLPBP, 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, PRPS1, PRRT2, PRSS12, PRTN3, PRUNE1, PSAP, PSAT1, PSMD12, PSPH, PTCH1, PTCHD1, PTEN, PTF1A, PTH, PTPN11, PTPN22, PTPN23, PTPN4, PTPRD, PTRH2, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PVRL1, PYCR2, QARS1, 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, RXYLT1, RYR2, RYR3, SACS, SAMD9, SAMHD1, SARS1, 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, 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, SPART, SPAST, SPATA5, SPDL1, SPEN, SPG11, 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, STEEP1, STIL, STRA6, STRADA, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, STYXL1, SUCLA2, SUCLG1, SUCO, SUMF1, SUOX, SURF1, SUV420H1, SV2A, SVBP, 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, TMEM67, TMEM70, TMEM94, 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, TWNK, TXN2, TYMP, TYROBP, UBA5, UBAC2, UBB, UBE2A, UBE3A, UBN2, UBR5, UBTF, UFC1, UFD1, UFM1, UGDH, UGP2, UMPS, UNC13D, UNC80, UPB1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, USP15, USP18, USP7, USP9X, VAMP2, VANGL1, VARS, VARS1, VCP, VDR, VLDLR, VPS11, VPS13A, VPS13B, VPS51, VPS53, VRK1, WAC, WARS2, WASF1, WASHC4, WDR19, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, 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

Days Performed

TAT: 6 Weeks

Performing Laboratory

GeneDx

CPT

81404 x4 81406 x2 81407 81408 x2 81302 81405 x2

PDM

1659859

Desired Epic Build EpiXpanded Panel

Cerner Primary Mnemonic: EpiXpanded Panel
PDM 1659859
Informatics - WorkgroupMolecular-send outs
Synonyms *Epi Trio
Display Name *EpiXpanded Panel
Order Entry Specimen Sources *
Order Entry Specimen Types
Blood
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)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 GeneDX code 921
IP Orderable Yes
OP Orderable Yes
AOEs *

AP AOEs
Special History No
Build Comments
Filter *genetics
Procedure Category Change
Cerner Results

Result DescResult displayResult PDM
EpiXpand Seq EpiXpanded Panel Sequence Analysis 1659859A

Actual Epic build

Procedure Id 115549
Pdm 1659859
Order Display Name EpiXpanded Panel
Procedure Name EPIXPANDED PANEL
Procedure Master Number LAB11617
Short Procedure Name EPIXPANDED PANEL
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms EPI TRIO
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115549
Ordering Instructions
Default Specimen Type Blood
Specimen Type Pick List Blood
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous
Specimen Source Default - Male
Specimen Source Default - Female
Specimen Source List
Op Specimen Source List
Ip Lab Test Components For Report
Op Lab Test Components For Report
Order Questions ["3048500000"]
Order Questions Record Name
Inpatient Order Questions ["3048500000"]
Inpatient Order Questions Record Name
Order Specific Question Override
Inpatient Question Override
Location Restrict List Ip
Location Restrict List Ip Record Name
Location Restrict List Include Ip
Location Restrict List Op
Location Restrict List Op Record Name
Location Restrict List Includes Op
Edp Amb Order Specific Questions Record Name NH IP PATIENT COMPLETED CONSENT
Edp Ip Order Specific Questions Record Name NH IP PATIENT COMPLETED CONSENT
Edp Ip Specimen Source
Edp Op Specimen Source
Edp Ip Specimen Type
Edp Op Specimen Type
Derived Edp Ip Buttons S
Derived Edp Ip Buttons T
Derived Edp Op Buttons S
Derived Edp Op Buttons T
Ip Orderable 1
Op Orderable 1
EPIC OP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047802334.0 EPIXPANDED PANEL SEQUENCE ANALYSIS EPIXPANSEQAN EPIXPANDED PANEL SEQUENCE ANALYSIS 1659859A