Autism/ID Xpanded® Panel

New York
Approved


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

Conditions

  • Intellectual disability
  • Autism spectrum disorders

Clinical Utility

  • 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

Lab Method

  • Next-Gen Sequencing

The American College of Medical Genetics and Genomics (ACMG) strongly supports exome or genome sequencing as a first-tier test for patients with developmental delay, intellectual disabilities and/or congenital anomalies.

References:

  1. Genetics in Medicine (2021) 23:2029–2037; https://doi.org/10.1038/s41436-021-01242-6

Test Code

952

CPT Codes*

81470x1, 81471x1

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Dried Blood Spots | Buccal Swabs

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

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.