Autism/ID Xpanded Panel (952)
Test Catalog Information
Test Catalog Synonyms | |
EPIC Synonyms | |
Cerner Primary Mnemonic | Autism/ID Xpanded Panel (952) |
EPIC Display Name | Autism/ID Xpanded Panel (952) |
Allscripts (AEHR) Order Name | Autism/ID Xpanded Panel (952) |
Sunrise Clinical Manager (SCM) Order Name | Autism/ID Xpanded Panel |
EPIC Inpatient Orderable | Yes |
EPIC Outpatient Orderable | Yes |
Cerner Results |
Autism/ID Xpanded Panel |
Clinical Info |
Molecular confirmation of a clinical diagnosis To assist with decisions about treatment and management of individuals with autism or intellectual disability 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 |
Specimen Type | |
Container |
Lavender Top Tube |
Collection Instructions |
Container/Tube: Lavender (EDTA) Top Tube Specimen: 5 mL Whole Blood ( 2 mL min) Transport Temperature: Room Temperature |
Transport Instructions | |
Specimen Stability | |
Methodology |
Next-Gen Sequencing Genes: A2ML1, AAAS, AARS, AARS2, AASS, ABAT, ABCA13, ABCA2, ABCA5, ABCB5, ABCB7, ABCC12, ABCC8, ABCC9, ABCD1, ABCD4, ABCG2, ABHD5, ABI2, ABL1, ACACA, ACACB, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACAT1, ACAT2, ACBD5, ACBD6, ACD, ACE, ACER3, ACMSD, ACO2, ACOT7, ACOX1, ACOX2, ACP5, ACSF3, ACSL4, ACTA1, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACY1, ADAM22, ADAMTS1, ADAMTS10, ADAMTSL1, ADAR, ADARB1, ADAT3, ADCK3, ADCK4, ADCY5, ADD3, ADGRG1, ADIPOR1, ADK, ADNP, ADPRHL2, ADRA2B, ADSL, AFF2, AFF3, AFF4, AFG3L2, AGA, AGGF1, AGK, AGL, AGMO, AGO1, AGO2, AGPAT2, AGTPBP1, AGTR2, AGXT2, AHCY, AHDC1, AHI1, AHRR, AHSG, AIFM1, AIMP1, AIMP2, AKAP13, AKT1, AKT2, AKT3, ALAD, ALDH18A1, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALMS1, ALPI, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMMECR1, AMPD1, AMPD2, AMT, ANGPTL6, ANK2, ANKH, ANKLE2, ANKRD11, ANKS1A, ANKS1B, ANKS3, ANO10, ANO3, ANTXR1, ANXA1, AP1S1, AP1S2, AP2M1, AP2S1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APAF1, APBA2, APC2, APOA1BP, APOL2, APOL4, APOPT1, APTX, AQP2, AQP4, ARCN1, ARF1, ARFGEF2, ARG1, ARHGAP24, ARHGAP31, ARHGAP35, ARHGAP4, ARHGDIA, ARHGEF15, ARHGEF2, ARHGEF4, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARID4A, ARL13B, ARL14EP, ARL3, ARL6, ARL6IP6, ARMC9, ARNT2, ARSA, ARSF, ARSH, ARSL (ARSE), ARV1, ARVCF, ARX, ASAH1, ASB1, ASCC3, ASCL1, ASH1L, ASL, ASMT, ASNS, ASPA, ASPM, ASS1, ASTN1, ASTN2, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATCAY, ATG5, ATIC, ATL1, ATN1, ATP10A, ATP11C, ATP13A2, ATP13A4, ATP1A1, ATP1A2, ATP1A3, ATP1B4, ATP2A1, ATP2A2, ATP2B2, ATP2B3, ATP2B4, ATP2C2, ATP4A, ATP5A1, ATP5D, ATP5E, ATP6AP1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRIP, ATRN, ATRX, AUH, AUTS2, AVPR2, AXIN2, B3GALNT2, B3GALT6, B3GALTL, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B3GAT3, B9D1, B9D2, BAZ1A, BAZ1B, BAZ2B, BBIP1, BBOX1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCS1L, BDNF, BEND2, BFSP2, BGN, BHLHA9, BICD2, BIRC6, BLM, BLNK, BMP2, BMP3, BMP4, BMPER, BNC2, BOD1, BOLA3, BPTF, BRAF, BRAT1, BRCC3, BRD4, BRF1, BRPF1, BRSK2, BRWD1, BRWD3, BSCL2, BSN, BSND, BTAF1, BTD, BTRC, BUB1B, BUB3, C10orf2, C11orf73, C11orf95, C12orf4, C12orf57, C12orf65, C17orf89, C19orf12, C19orf70, C2CD3, C5orf42, C8orf37, CA2, CA5A, CA8, CABIN1, CACHD1, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNA2D3, CACNB4, CACNG2, CAD, CADM1, CADPS2, CALM1, CAMK2A, CAMK2B, CAMK2G, CAMK4, CAMKMT, CAMTA1, CANT1, CAPN10, CAPN12, CARS, CARS2, CARKD, CASK, CASP10, CASP2, CASZ1, CAV1, CBL, CBS, CC2D1A, CC2D2A, CCAR2, CCBE1, CCDC115, CCDC141, CCDC174, CCDC22, CCDC23, CCDC47, CCDC82, CCDC88A, CCDC88C, CCM2, CCND2, CCNK, CCR1, CD59, CD96, CDC42, CDC42BPB, CDC45, CDC6, CDCA7, CDH1, CDH10, CDH11, CDH15, CDH2, CDH8, CDK10, CDK13, CDK19, CDK5, CDK5R1, CDK5RAP2, CDK6, CDK8, CDKL5, CDKN1C, CDON, CDSN, CECR1, CELF4, CELSR1, CELSR2, CELSR3, CENPE, CENPF, CENPJ, CENPT, CEP104, CEP120, CEP135, CEP152, CEP164, CEP19, CEP290, CEP41, CEP57, CEP63, CEP83, CEP85L, CEP89, CEP97, CERS1, CFHR2, CFL2, CHAF1B, CHAMP1, CHAT, CHD1, CHD1L, CHD2, CHD3, CHD4, CHD6, CHD7, CHD8, CHI3L1, CHKB, CHL1, CHM, CHMP1A, CHRDL1, CHRM3, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CHRNG, CHST14, CHST3, CHSY1, CIAO1, CIC, CIT, CKAP2L, CLASP2, CLCF1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLEC7A, CLIC2, CLIP1, CLIP2, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLPTM1, CLPTM1L, CLTC, CLTCL1, CMIP, CNKSR1, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNPY3, CNTN2, CNTN3, CNTN4, CNTN6, CNTNAP1, CNTNAP2, CNTNAP3, CNTNAP5, COA3, COA5, COA6, COA7, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL13A1, COL18A1, COL27A1, COL4A1, COL4A2, COL4A3BP, COLEC10, COLEC11, COLGALT1, COMT, COPB2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ9, CORO1A, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, COX8A, CPA6, CPE, CPLX1, CPOX, CPQ, CPS1, CPT1A, CPT1B, CPT2, CRADD, CRAT, CRB2, CRBN, CREBBP, CRELD1, CRH, CRHR1, CRIPT, CRKL, CRLF1, CRY2, CSDE1, CSF1R, CSMD1, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTH, CTNNA2, CTNNA3, CTNNB1, CTNND1, CTNND2, CTR9, CTSA, CTSD, CTSF, CTSH, CTTNBP2, CTU2, CUL3, CUL4B, CUL5, CUL7, CUX1, CUX2, CWC27, CWF19L1, CXCR4, CXORF56, CYB5R3, CYC1, CYFIP1, CYFIP2, CYP24A1, CYP26B1, CYP27A1, CYP27B1, CYP2C9, CYP2R1, CYP2U1, D2HGDH, DAB1, DAG1, DAK, DAOA, DAPK1, DARS, DARS2, DBH, DBT, DBX2, DCAF17, DCC, DCHS1, DCPS, DCX, DDB1, DDC, DDHD2, DDOST, DDR2, DDX10, DDX11, DDX23, DDX24, DDX3X, DDX53, DDX59, DDX6, DEAF1, DEGS1, DENND5A, DENR, DEPDC5, DGCR2, DGCR6, DGCR8, DGKD, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHTKD1, DHX16, DHX30, DHX37, DIAPH1, DIP2B, DIP2C, DIS3L2, DISC1, DISP1, DKC1, DLAT, DLD, DLG1, DLG2, DLG3, DLG4, DLGAP2, DLL1, DLL3, DLL4, DLX6, DMBX1, DMD, DMXL1, DMXL2, DNA2, DNAH1, DNAH10, DNAH11, DNAH14, DNAH7, DNAJC12, DNAJC13, DNAJC19, DNAJC21, DNAJC3, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DPYD, DPYS, DPYSL5, DRD2, DRP2, DSCAM, DSTYK, DTNB, DUOX1, DUOX2, DUOXA2, DVL1, DVL3, DYM, DYNC1H1, DYNC1I2, DYNC2LI1, DYRK1A, EARS2, EBF3, EBP, ECE1, ECHS1, ECM1, EDA2R, EDC3, EDNRB, EED, EEF1A2, EEF1B2, EEF2, EFCAB5, EFHC1, EFHC2, EFNB1, EFR3A, EFTUD1, EFTUD2, EGF, EHHADH, EHMT1, EIF2AK1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, EIF4E, EIF4ENIF1, ELAC2, ELK1, ELMO2, ELOVL1, ELOVL4, ELP2, ELP4, EMC1, EMG1, EML1, EMX2, ENAH, ENTPD1, EOGT, EP300, EPB41L1, EPB42, EPC2, EPG5, EPHA3, EPHA4, EPHA5, EPHA7, EPHB2, EPM2A, EPRS, EPT1, ERBB2IP, ERBB4, ERC1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ERMARD, ESCO2, ESRRG, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC4, EXOC6B, EXOC7, EXOSC2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT2, EXTL3, EYA1, EZH1, EZH2, EZR, FA2H, FAAH2, FABP3, FABP7, FADD, FAM111A, FAM120A, FAM126A, FAM134B, FAM149B1, FAM151A, FAM177A1, FAM183A, FAM20C, FAM3C, FAM50A, FAM58A, FAM65B, FANCB, FAR1, FARS2, FARSA, FARSB, FASLG, FASN, FASTKD2, FAT1, FAT3, FAT4, FBLN1, FBN3, FBP1, FBXL3, FBXL4, FBXO11, FBXO18, FBXO28, FBXO31, FBXW11, FBXW7, FDFT1, FDPS, FDX1L, FDXR, FEZF2, FGD1, FGF12, FGF13, FGF14, FGF23, FGF3, FGF5, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FIBP, FIG4, FITM2, FKBP10, FKBPL, FKRP, FKTN, FLII, FLNA, FLNB, FLRT3, FLVCR1, FLVCR2, FMN1, FMN2, FMR1, FOLR1, FOS, FOXC1, FOXE1, FOXG1, FOXH1, FOXI1, FOXN1, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FRMD4A, FRMPD4, FRRS1L, FRY, FTCD, FTL, FTO, FTSJ1, FTSJ2, FUCA1, FUK, FUT8, FXYD2, FZD9, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GABRG3, GABRQ, GABRR1, GABRR3, GAD1, GAL, GALC, GALE, GALNTL5, GALT, GAMT, GAN, GAP43, GARS, GAS1, GATA3, GATA6, GATAD2B, GATM, GBA, GBA2, GCDH, GCH1, GCLC, GCM2, GCSH, GDF5, GDI1, GDNF, GEMIN4, GFAP, GFER, GFM1, GFM2, GFPT1, GGT1, GIGYF2, GIT1, GJA1, GJB1, GJC2, GK, GLB1, GLDC, GLE1, GLI2, GLI3, GLIS3, GLRA1, GLRA2, GLRB, GLRX5, GLS, GLTSCR1, GLUD1, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAQ, GNAS, GNB1, GNB1L, GNB2, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNRH1, GNS, GOLGA2, GON4L, GORAB, GOSR2, GOT2, GP9, GPAA1, GPC3, GPC4, GPC6, GPD2, GPHN, GPI, GPKOW, GPM6A, GPR101, GPR112, GPR125, GPR161, GPR37, GPR85, GPR88, GPRASP2, GPSM2, GPT2, GRB10, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIK3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM5, GRM7, GRM8, GRN, GRPR, GSPT2, GSS, GSX2, GTF2E2, GTF2H5, GTF2IRD1, GTPBP2, GTPBP3, GUCY1A3, GUF1, GUSB, GYG2, GYS2, H3F3A, H3F3B, HAAO, HACE1, HADH, HAP1, HARS2, HAX1, HBS1L, HCCS, HCFC1, HCN1, HCN2, HCRT, HDAC1, HDAC4, HDAC6, HDAC8, HDLBP, HDX, HECW2, HELLS, HELZ, HEPACAM, HEPHL1, HERC1, HERC2, HES7, HESX1, HEXA, HEXB, HGSNAT, HHAT, HIBCH, HIC1, HTRA1, HIP1, HIRA, HIST1H1E, HIST1H4C, HIST3H3, HIVEP2, HK1, HLCS, HMBS, HMGA2, HMGB1, HMGB3, HMGCL, HMGCS2, HMHA1, HNMT, HNRNPH1, HNRNPH2, HNRNPK, HNRNPL, HNRNPR, HNRNPU, HOXA1, HOXA2, HPCA, HPD, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPA9, HSPD1, HSPG2, HTR1A, HTR2A, HTR3A, HTRA2, HUWE1, HYLS1, IARS, IARS2, IBA57, ICE2, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFNAR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IFT88, IGBP1, IGF1, IGF1R, IGF2, IGSF1, IL10, IL11RA, IL12A, IL12B, IL12RB2, IL17F, IL17RA, IL1RAPL1, IL23R, IL27RA, ILF2, IMMP2L, IMPA1, IMPAD1, IMPDH2, INO80, INPP4A, INPP5E, INPP5K, INPPL1, INS, INSR, INTS1, INTS6, INTS8, INTU, INVS, IQCB1, IQGAP3, IQSEC1, IQSEC2, IREB2, IRF2BPL, IRF9, IRX5, ISCA1, ISCA2, ISCU, ISG15, ISPD, ITCH, ITGA3, ITGA4, ITGA7, ITGA9, ITGB6, ITK, ITPA, ITPR1, ITSN1, ITSN2, IVD, IYD, JAG1, JAKMIP1, JAM3, JARID2, JMJD1C, KANK1, KANSL1, KARS, KAT2B, KAT6A, KAT6B, KAT8, KATNAL2, KATNB1, KCNA1, KCNA2, KCNA4, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNG1, KCNH1, KCNH7, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNJ6, KCNJ8, KCNK4, KCNK9, KCNMA1, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD13, KCTD3, KCTD7, KDELC2, KDM1A, KDM2B, KDM3A, KDM3B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0195, KIAA0196, KIAA0226, KIAA0556, KIAA0586, KIAA0753, KIAA1033, KIAA1109, KIAA1210, KIAA1279, KIAA1549, KIAA1715, KIAA2022 (NEXMIF), KIDINS220, KIF11, KIF14, KIF17, KIF1A, KIF21A, KIF21B, KIF23, KIF2A, KIF4A, KIF5A, KIF7, KIRREL3, KISS1, KLB, KLC2, KLF13, KLF7, KLF8, KLHL15, KLHL24, KLHL41, KLHL7, KLLN, KLRC4, KMT2A (MLL), KMT2B, KMT2C, KMT2D, KMT2E, KNL1, KPNA7, KPTN, KRAS, KRIT1, KSR2, KY, KYNU, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMC1, LAMC3, LAMP2, LARGE, LARP7, LARS, LARS2, LAS1L, LBR, LDHB, LEMD2, LEMD3, LEO1, LEP, LETM1, LFNG, LGI1, LGI4, LGR4, LHX1, LHX3, LIAS, LIG4, LIMK1, LIN7A, LIN7B, LINGO1, LINGO2, LINS, LIPT1, LIPT2, LLGL1, LMAN2L, LMBR1, LMBRD1, LMNB1, LMNB2, LMOD3, LONP1, LPIN3, LRFN2, LRP1, LRP2, LRPPRC, LRRC4, LRRC6, LRRC7, LRRK1, LRRTM4, LSS, LTBP1, LTC4S, LYRM4, LYRM7, LYST, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MAD2L2, MADD, MAF, MAFB, MAG, MAGED2, MAGEL2, MAGI1, MAGI2, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2, MAP2K1, MAP2K2, MAP2K3, MAP3K15, MAP3K7, MAP4, MAPK1, MAPK10, MAPK3, MAPK8IP3, MAPRE2, MARS2, MASP1, MAST1, MAT1A, MATN4, MBD1, MBD5, MBD6, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCF2, MCM3AP, MCM4, MCOLN1, MCPH1, MCTP2, MDH1, MDH2, MDN1, ME2, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEGF10, MEGF8, MEIS2, MESP2, METTL23, METTL5, MFF, MFHAS1, MFRP, MFSD2A, MFSD8, MGAT2, MGAT4C, MGME1, MGP, MICAL1, MICU1, MID1, MID2, MIPEP, MKKS, MKS1, MKX, MLC1, MLLT3, MLLT4, MLX, MLXIPL, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMGT1, MMP8, MN1, MNX1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPDZ, MPLKIP, MPP7, MPV17, MRAP, MRAS, MRI1, MRPL10, MRPL12, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS25, MRPS34, MSL2, MSL3, MSMO1, MSTO1, MSX2, MTFMT, MTHFD1, MTHFS, MTMR8, MTO1, MTOR, MTPAP, MTR, MTRR, MTSS1L, MUT, MVK, MXRA5, MXRA8, MYCBP2, MYCN, MYEF2, MYH1, MYH10, MYH3, MYH8, MYO18B, MYO1C, MYO1H, MYO5A, MYO7B, MYO9A, MYOCD, MYOF, MYRF, MYT1, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGPA, NAGS, NALCN, NANS, NARS, NARS2, NAT8L, NAV1, NAV2, NBAS, NBEA, NBN, NCAPD2, NCAPD3, NCAPG2, NCAPH, NCDN, NCKAP1, NCOR1, NCS1, NDE1, NDN, NDNL2, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, 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, NEMF, NEU1, NEUROD2, NF1, NFASC, NFAT5, NFE2L2, NFIA, NFIB, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHLRC2, NHP2, NHS, NID1, NIN, NIPA1, NIPA2, NIPBL, NKAIN2, NKAP, NKX2-1, NKX2-5, NKX6-2, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NLRP2, NLRP3, NME7, NME8, NMNAT1, NNT, NOG, NOL3, NONO, NOP10, NOS1AP, NOTCH3, NOVA2, NPAP1, NPAS3, NPAS4, NPC1, NPC2, NPEPPS, NPHP1, NPHP3, NPRL2, NPRL3, NR0B1, NR2F1, NR2F2, NR4A2, NRAS, NRD1, NRG1, NRGN, NRROS, NRTN, NRXN1, NRXN2, NRXN3, NSD1, NSDHL, NSUN2, NSUN7, NT5C2, NTN1, NTNG1, NTNG2, NTRK1, NTRK2, NTRK3, NUBPL, NUDT2, NUP107, NUP133, NUP214, NUP62, NUS1, NXF5, NXPH3, OCLN, OCRL, ODC1, OFD1, OGDH, OGT, OMG, OPA1, OPA3, OPCML, OPHN1, OPLAH, OPRL1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTC, OTOGL, OTUD6B, OTUD7A, OTX1, OTX2, OXR1, OXTR, P4HA2, P4HB, P4HTM, PABPC4L, PACS1, PACS2, PAFAH1B1, PAFAH1B3, PAH, PAK1, PAK3, PAM16, PANK2, PANX1, PARN, PARP10, PARS2, PASK, PAX1, PAX3, PAX5, PAX6, PAX8, PAXBP1, PBX1, PC, PCBD1, PCCA, PCCB, PCDH11X, PCDH12, PCDH19, PCDH7, PCDHB16, PCDHB4, PCGF2, PCK1, PCLO, PCM1, PCNA, PCNT, PCYT2, PDCD10, PDE10A, PDE2A, PDE4B, PDE4D, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PDZD2, PECR, PEPD, PER1, PER2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKFB1, PGAM5, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PGRMC1, PHACTR1, PHC1, PHF2, PHF21A, PHF3, PHF6, PHF8, PHGDH, PHIP, PHKG2, PI4KA, PIBF1, PIEZO1, PIEZO2, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3AP1, PIK3C2A, PIK3CA, PIK3R2, PIK3R5, PISD, PITRM1, PITX3, PLA2G6, PLAA, PLAGL1, PLAT, PLCB1, PLCB4, PLEKHG2, PLK4, PLOD3, PLP1, PLXNA3, PLXNB3, PLXND1, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, PODXL, POFUT1, POGZ, POLA1, POLE, POLG, POLG2, POLR1A, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, POR, PORCN, POU1F1, POU3F2, POU3F3, PPA2, PPARGC1A, PPIB, PPM1B, PPM1D, PPM1K, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R3C, PPP2CA, PPP2R1A, PPP2R2B, PPP2R2C, PPP2R5B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PQBP1, PRCP, PRDM12, PRDM8, PRDX1, PREPL, PRF1, PRICKLE1, PRICKLE2, PRICKLE3, PRIMA1, PRKAR1A, PRKAR1B, PRKCA, PRKCG, PRKD1, PRKDC, PRKG2, PRKRA, PRMT7, PRMT9, PRODH, PROP1, PROSC, PRPF8, PRPS1, PRR12, PRSS12, PRTN3, PRUNE, PSAP, PSAT1, PSMC5, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH, PTH1R, PTPN11, PTPN22, PTPN23, PTPN4, PTPRD, PTPRK, PTRH2, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PVRL1, PXDN, PYCR1, PYCR2, QARS, QDPR, QRICH1, QRSL1, RAB11A, RAB11B, RAB11FIP5, RAB14, RAB18, RAB23, RAB27A, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAD50, RAF1, RAI1, RALA, RALGAPA1, RALGAPB, RALGDS, RANBP2, RAP1A, RAP1B, RARB, RARS, RARS2, RASA2, RASGRP1, RBBP8, RBFOX1, RBFOX3, RBM10, RBM28, RBM8A, RBPJ, RDH11, RECQL4, REEP1, RELA, RELN, REPS1, RERE, REV3L, RFC2, RFT1, RFWD2, RGMA, RGR, RGS6, RGS7, RHEB, RHOA, RHOBTB2, RIC1, RIC3, RILP, RIMS1, RIMS3, RIN2, RIPK1, RIPPLY1, RIPPLY2, RIT1, RLBP1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF128, RNF13, RNF135, RNF168, RNF216, ROBO1, ROBO2, ROBO3, ROGDI, ROR2, RORA, RORB, ROS1, RPGRIP1L, RPIA, RPL10, RPL11, RPL15, RPL26, RPL35A, RPS19, RPS20, RPS23, RPS28, RPS6KA3, RPS6KC1, RPS7, RRAS, RRAS2, RREB1, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTN4R, RTTN, RUNX1T1, RUSC2, RYR2, RYR3, SACS, SALL1, SAMD11, SAMD9, SAMHD1, SAR1B, SARS, SARS2, SASS6, SATB1, SATB2, SATL1, SBDS, SBF1, SC5D, SCAF4, SCAMP5, SCAPER, SCARB2, SCARF2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN7A, SCN8A, SCNM1, SCO1, SCO2, SCP2, SCRIB, SCUBE2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SEC24C, SEC24D, SEMA3C, SEMA3D, SEMA3E, SEMA4G, SEMA5A, SEMA6B, SEMA6D, SEPSECS, SERAC1, SERPINB4, SESN2, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETDB2, SF3B4, SFXN4, SGCE, SGPL1, SGSH, SH2B1, SH3PXD2B, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SHOX2, SHROOM4, SIAH1, SIK1, SIK3, SIL1, SIM1, SIN3A, SIN3B, SIPA1L1, SIX3, SKI, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC16A3, SLC17A3, SLC17A5, SLC17A9, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A25, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A4, SLC25A42, SLC25A43, SLC25A46, SLC25A5, SLC26A1, SLC29A4, SLC2A1, SLC2A10, SLC2A2, SLC2A3, SLC30A9, SLC31A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC37A4, SLC39A14, SLC39A8, SLC44A1, SLC45A1, SLC46A1, SLC4A10, SLC4A4, SLC5A5, SLC5A6, SLC5A7, SLC6A1, SLC6A13, SLC6A17, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A3, SLC7A5, SLC7A7, SLC9A1, SLC9A6, SLC9A7, SLC9A9, SLCO1B3, SLCO1C1, SLIT2, SLIT3, SLITRK1, SLITRK5, SMAD2, SMAD4, SMARCA1, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMO, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNIP1, SNRPB, SNRPN, SNTG2, SNX14, SNX27, SOBP, SOGA3, SON, SORCS1, SOS1, SOS2, SOST, SOX10, SOX11, SOX18, SOX2, SOX3, SOX4, SOX5, SOX6, SOX9, SPARC, SPAST, SPATA5, SPDL1, SPECC1L, SPEN, SPG11, SPG20, SPG21, SPN, SPOCK1, SPOP, SPP1, SPP2, SPR, SPRED1, SPTAN1, SPTBN2, SPTBN4, SPTBN5, SQSTM1, SRCAP, SRD5A3, SRP54, SRPK2, SRPK3, SRPX2, SRRM2, SRSF11, SSR4, SSTR5, SSX1, ST3GAL3, ST3GAL5, ST5, ST7, ST8SIA2, STAC3, STAG1, STAG2, STAMBP, STAR, STARD9, STAT1, STAT2, STAT4, STIL, STIM1, STRA6, STRADA, STT3A, STT3B, STUB1, STX11, STX16, STX1A, STX1B, STX3, STXBP1, STXBP2, STXBP5L, STYXL1, SUCLA2, SUCLG1, SUCO, SUMF1, SUOX, SUPT16H, SURF1, SUV420H1, SUZ12, SV2A, SV2B, SVIL, SYN1, SYN2, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYNPO, SYP, SYT1, SYT14, SYT2, SZT2, TAB2, TAC3, TACO1, TAF1, TAF13, TAF2, TAF6, TALDO1, TANC2, TANGO2, TAOK1, TAOK2, TARS2, TASP1, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBC1D30, TBC1D32, TBC1D7, TBCD, TBCE, TBCK, TBL1X, TBL1XR1, TBL2, TBR1, TBX1, TBX18, TBX19, TBX2, TBX4, TCF12, TCF20, TCF3, TCF4, TCF7L1, TCF7L2, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TDGF1, TDP2, TECPR2, TECR, TELO2, TENM1, TENM4, TERT, TFAP2A, TFAP2B, TFE3, TG, TGDS, TGFBR3, TGIF1, TH, THAP11, THBS1, THG1L, THOC2, THOC6, THRA, THRB, TIMM50, TIMM8A, TIMMDC1, TINF2, TK2, TKT, TLK2, TLN2, TM4SF20, TMCO1, TMEM106B, TMEM107, TMEM126B, TMEM135, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM63A, TMEM67, TMEM70, TMEM8C, TMEM92, TMLHE, TMTC3, TMX2, TNC, TNFRSF11A, TNFSF4, TNIK, TNKS, TNPO3, TNR, TNRC6B, TNS3, TOE1, TONSL, TOP2B, TOP3B, TOR1A, TOR1AIP1, TP53RK, TP63, TPI1, TPK1, TPM3, TPO, TPP1, TPP2, TPRKB, TRAF3IP1, TRAF3IP2, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2L, TRAPPC4, TRAPPC6A, TRAPPC6B, TRAPPC9, TREX1, TRH, TRHR, TRIM17, TRIM3, TRIM32, TRIM8, TRIO, TRIP12, TRIP13, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT5, TRNT1, TRPC5, TRPC6, TRPM3, TRPM6, TRPM7, TRPS1, TRPV6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSHZ3, TSPAN7, TTC19, TTC21B, TTC37, TTC8, TTI2, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP5, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2, TXN2, TYMP, TYROBP, U2AF2, UBA5, UBA7, UBAC2, UBB, UBE2A, UBE2T, UBE3A, UBE3B, UBN2, UBR1, UBR3, UBR5, UBR7, UBTF, UCHL1, UFC1, UFD1L, UFM1, UGDH, UGP2, ULK4, UMPS, UNC13A, UNC13B, UNC13C, UNC13D, UNC80, UPB1, UPF1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, USB1, USP15, USP18, USP27X, USP30, USP34, USP44, USP45, USP7, USP9X, VAC14, VAMP2, VANGL1, VARS, VARS2, VAX1, VCP, VCX3A, VDR, VIPAS39, VIPR2, VLDLR, VPS11, VPS13A, VPS13B, VPS13D, VPS33A, VPS33B, VPS37A, VPS45, VPS4A, VPS51, VPS53, VRK1, VSIG1, VSX2, VWA3B, WAC, WARS, WARS2, WASF1, WDFY3, WDPCP, WDR1, WDR13, WDR19, WDR26, WDR35, WDR37, WDR4, WDR45, WDR45B, WDR5, WDR60, WDR62, WDR73, WDR81, WDR93, WFS1, WHSC1, WIPI2, WNK1, WNT1, WNT5A, WNT7A, WRAP53, WWOX, XIRP1, XK, XPA, XPNPEP3, XPO5, XPR1, XRCC1, XRCC4, XYLT1, XYLT2, YAP1, YARS, YIF1B, YME1L1, YWHAE, YWHAG, YY1, YY1AP1, ZBTB11, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZBTB33, ZBTB40, ZC3H14, ZC4H2, ZCCHC12, ZCCHC8, ZDHHC15, ZDHHC9, ZEB2, ZFHX4, ZFP57, ZFPM2, ZFR, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYM2, ZMYM3, ZMYND11, ZMYND12, ZNF107, ZNF142, ZNF148, ZNF277, ZNF292, ZNF335, ZNF365, ZNF385B, ZNF407, ZNF41, ZNF423, ZNF462, ZNF526, ZNF589, ZNF592, ZNF638, ZNF668, ZNF674, ZNF711, ZNF778, ZNF804A, ZNF81, ZNHIT3, ZSCAN29, ZSWIM6 |
Days Performed |
TAT; 6 Weeks |
Performing Laboratory |
GeneDx |
CPT |
81470 81471 |
PDM |
225320 |
Desired Epic Build Autism/ID Xpanded Panel (952)
Cerner Primary Mnemonic: | Autism/ID Xpanded Panel (952) | ||||||
PDM | 225320 | ||||||
Informatics - Workgroup | Molecular-send outs | ||||||
Synonyms * | |||||||
Display Name * | Autism/ID Xpanded Panel (952) | ||||||
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 autism or intellectual disability 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 | ||||||
IP Orderable | Yes | ||||||
OP Orderable | Yes | ||||||
AOEs * | |||||||
AP AOEs | |||||||
Special History | No | ||||||
Build Comments | |||||||
Filter * | genetics | ||||||
Procedure Category Change | |||||||
Cerner Results
|
Current Actual EPIC Build as of 10/28/2024
Procedure Id | 114810 | ||||||||||||
Pdm | 225320 | ||||||||||||
Order Display Name | Autism/ID Xpanded Panel (952) | ||||||||||||
Procedure Name | AUTISM/ID XPANDED PANEL | ||||||||||||
Procedure Master Number | LAB11217 | ||||||||||||
Short Procedure Name | AUTISM/ID XPANDED PANEL | ||||||||||||
Category Code | 1.0 | ||||||||||||
Category Code Record Name | LAB BLOOD ORDERABLES | ||||||||||||
Synonyms | |||||||||||||
Clinically Active | Yes | ||||||||||||
Orderable | Yes | ||||||||||||
Performable | Yes | ||||||||||||
Filter Genomics | Generic Genomics Procedure | ||||||||||||
Reference Link Url | https://labs.northwell.edu/epic/test/114810 | ||||||||||||
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 | Blood, Venous | ||||||||||||
Specimen Source Default - Female | Blood, Venous | ||||||||||||
Specimen Source List | |||||||||||||
Op Specimen Source List | |||||||||||||
Ip Lab Test Components For Report | |||||||||||||
Op Lab Test Components For Report | |||||||||||||
Order Questions | [] | ||||||||||||
Order Questions Record Name | |||||||||||||
Inpatient Order Questions | [] | ||||||||||||
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 | |||||||||||||
Edp Ip Order Specific Questions Record Name | |||||||||||||
Edp Ip Specimen Source | Blood, Venous Blood, Central Line Blood, Arterial Blood, Capillary | ||||||||||||
Edp Op Specimen Source | |||||||||||||
Edp Ip Specimen Type | Blood | ||||||||||||
Edp Op Specimen Type | |||||||||||||
Derived Edp Ip Buttons S | Blood, Central Line Blood, Venous Blood, Capillary Blood, Arterial | ||||||||||||
Derived Edp Ip Buttons T | Blood | ||||||||||||
Derived Edp Op Buttons S | |||||||||||||
Derived Edp Op Buttons T | |||||||||||||
Ip Orderable | 1 | ||||||||||||
Op Orderable | 1 | ||||||||||||
EPIC OP AOEs | |||||||||||||
EPIC IP AOEs | |||||||||||||
EPIC Components (results)
|