GeneDx

Rapid Testing

NICUXpress^™ Panel: ~3,500 Gene Panel with a Verbal Result in 7 Days

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Genes:

A2ML1, AAAS, AARS, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA3, ABCA4, ABCA5, ABCA7, ABCB11, ABCB4, ABCB6, ABCB7, ABCC2, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABHD11, ABHD5, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACD, ACE, ACER3, ACMSD, ACO2, ACOT7, ACOX1, ACP2, ACP5, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6B, ACTN1, ACTN2, ACTN4, ACVR1, ACVR2B, ACVRL1, ACY1, ADA, ADAM11, ADAM17, ADAM22, ADAM28, ADAMTS10, ADAMTS13, ADAMTS2, ADAMTSL2, ADAMTSL3, ADAP2, ADAR, ADARB1, ADAT3, ADCK3, ADCK4, ADCY5, ADCY6, ADD3, ADGRG1, ADGRG6, ADGRV1 (GPR98), ADK, ADNP, ADPGK, ADPRHL2, ADRA2B, ADSL, AEBP1, AFF2, AFF4, AFG3L2, AGA, AGGF1, AGK, AGL, AGMO, AGO1, AGPAT2, AGPS, AGRN, AGT, AGTPBP1, AGTR1, AGTR2, AGXT, AHCY, AHDC1, AHI1, AHSG, AIFM1, AIFM3, AIMP1, AIMP2, AIPL1, AIRE, AK2, AK7, AK9, AKAP9, AKR1D1, AKT1, AKT2, AKT3, ALAD, ALAS2, ALB, ALDH18A1, ALDH1A2, ALDH1A3, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALK, ALKBH8, ALMS1, ALOX12B, ALOXE3, ALPK1, ALPK3, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMELX, AMER1, AMH, AMHR2, AMMECR1, AMN, AMPD1, AMPD2, AMT, ANGPT2, ANGPTL6, ANK1, ANK2, ANK3, ANKH, ANKLE2, ANKRD1, ANKRD11, ANKRD26, ANO10, ANO3, ANO6, ANOS1, ANPEP, ANTXR1, ANTXR2, AP1S1, AP1S2, AP2S1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC, APC2, APOA1BP, APOA4, APOC2, APOPT1, APP, APPL1, APRT, APTX, AQP2, AR, ARCN1, ARFGEF2, ARG1, ARHGAP11B, ARHGAP26, ARHGAP31, ARHGAP35, ARHGDIA, ARHGEF10, ARHGEF12, ARHGEF15, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARID3A, ARID4A, ARL13B, ARL14EP, ARL3, ARL6, ARL6IP6, ARMC4, ARMC9, ARNT2, ARPC1B, ARRDC4, ARSA, ARSL (ARSE), ARV1, ARVCF, ARX, ASAH1, ASCC1, ASCL1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASTN1, ASTN2, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATCAY, ATIC, ATL1, ATM, ATN1, ATP10A, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2C1, ATP2C2, ATP5A1, ATP5C1, ATP5E, ATP5F1D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V0C, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF1, ATPAF2, ATR, ATRIP, ATRX, ATXN10, AUH, AUTS2, AVPR2, B3GALNT2, B3GALT6, B3GALTL, B3GAT3, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BAG3, BAZ1B, BAZ2B, BBIP1, BBOX1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCHE, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCR, BCS1L, BDNF, BEST1, BHLHA9, BICD2, BIN1, BLK, BLM, BLNK, BLOC1S6, BLVRA, BMP1, BMP15, BMP2, BMP4, BMPER, BMPR1A, BMPR1B, BMPR2, BOLA3, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRCC3, BRD1, BRD4, BRF1, BRIP1, BRPF1, BRWD3, BSCL2, BSN, BSND, BTD, BTG2, BTK, BTRC, BUB1, BUB1B, BUB3, C10orf2, C11ORF70, C11ORF73, C11ORF95, C12ORF4, C12ORF57, C12ORF65, C15ORF41, C19orf12, C19ORF70, C1QBP, C21ORF2, C21ORF59, C2CD3, C3, C5orf42, C6ORF25, C8B, C8ORF37, CA12, CA2, CA5A, CA8, CABIN1, CABP4, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNA2D2, CACNB2, CACNB4, CACNG2, CAD, CALM1, CALM2, CALM3, CAMK2A, CAMK2B, CAMK2D, CAMKMT, CAMSAP3, CAMTA1, CANT1, CAPN3, CAPZB, CARD11, CARKD, CARMIL2, CARS2, CASK, CASP10, CASP14, CASQ1, CASQ2, CASR, CASZ1, CAV1, CAV3, CBL, CBR4, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC115, CCDC134, CCDC141, CCDC151, CCDC174, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC47, CCDC65, CCDC78, CCDC8, CCDC88A, CCDC88C, CCM2, CCND2, CCNF, CCNO, CCR1, CCR9, CCS, CCT5, CD151, CD177, CD19, CD247, CD27, CD276, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD70, CD79A, CD79B, CD81, CD96, CDAN1, CDC42, CDC6, CDH1, CDH11, CDH15, CDH2, CDH23, CDH3, CDH4, CDK10, CDK13, CDK5, CDK5RAP2, CDK6, CDK8, CDKL5, CDKN1A, CDKN1C, CDON, CDRT15, CDSN, CDT1, CECR1, CEL, CELF4, CELSR1, CELSR2, CELSR3, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP19, CEP290, CEP41, CEP55, CEP57, CEP63, CEP89, CERKL, CERS1, CERS3, CFAP45, CFB, CFH, CFL2, CFP, CFTR, CHAMP1, CHAT, CHD1, CHD1L, CHD2, CHD3, CHD4, CHD6, CHD7, CHD8, CHKB, CHL1, CHMP1A, CHMP2B, CHN1, CHRDL1, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST8, CHSY1, CHUK, CIC, CIT, CITED2, CKAP2L, CKAP5, CLCF1, CLCN1, CLCN2, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN16, CLDN19, CLEC16A, CLEC7A, CLIC2, CLIP1, CLIP2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNGB3, CNKSR2, CNNM2, CNOT1, CNOT3, CNPY3, CNTN1, CNTN2, CNTN4, CNTNAP1, CNTNAP2, COA3, COA5, COA6, COA7, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL25A1, COL28A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A3BP, COL4A4, COL4A5, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL9A1, COL9A3, COLEC11, COLGALT1, COLQ, COMP, COMT, COPA, COPB2, COQ2, COQ4, COQ6, COQ7, COQ9, CORO1A, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CPA6, CPLX1, CPNE7, CPOX, CPS1, CPT1A, CPT1B, CPT2, CR2, CRADD, CRB1, CRB2, CRBN, CREBBP, CRELD1, CRH, CRHBP, CRHR1, CRIPT, CRKL, CRLF1, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB2, CRYGC, CRYGD, CSF1R, CSF2RA, CSF2RB, CSF3R, CSMD1, CSNK2A1, CSNK2B, CSPP1, CSRP3, CSTA, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTF1, CTH, CTLA4, CTNNA2, CTNNA3, CTNNB1, CTNND2, CTNS, CTR9, CTRC, CTSA, CTSD, CTSF, CTSK, CTU2, CUBN, CUL4B, CUL7, CUX1, CUX2, CWC27, CWF19L1, CXCR4, CYB561, CYB5R3, CYBA, CYBB, CYC1, CYFIP2, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, CYP24A1, CYP26B1, CYP26C1, CYP27A1, CYP27B1, CYP2C9, CYP2R1, CYP2U1, CYP4F22, CYP7B1, D2HGDH, DAG1, DAO, DARS, DARS2, DBH, DBR1, DBT, DCC, DCDC2, DCHS1, DCLRE1C, DCPS, DCTN4, DCX, DDB2, DDC, DDHD2, DDOST, DDR2, DDRGK1, DDX11, DDX20, DDX3X, DDX59, DEAF1, DECR1, DENND5A, DEPDC5, DES, DGAT1, DGCR14, DGCR2, DGCR6, DGCR8, DGKD, DGKE, DGKK, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHODH, DHTKD1, DHX30, DHX35, DHX37, DIAPH1, DICER1, DIP2B, DIP2C, DIS3L2, DISP1, DKC1, DKK1, DLAT, DLC1, DLD, DLG1, DLG2, DLG3, DLG4, DLG5, DLGAP2, DLL1, DLL3, DLL4, DLX3, DLX5, DMBX1, DMD, DMP1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJB2, DNAJB6, DNAJC12, DNAJC19, DNAJC21, DNAJC5, DNAJC6, DNAL1, DNASE1L3, DNASE2, DNM1, DNM1L, DNM2, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DONSON, DOPEY2, DOT1L, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DPYD, DPYS, DRC1, DROSHA, DSC2, DSCAM, DSE, DSG1, DSG2, DSP, DST, DSTYK, DTNA, DUOX2, DUOXA2, DUSP22, DVL1, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYRK2, DYSF, DYX1C1, DZIP1L, EARS2, EBF3, EBP, ECE1, ECEL1, ECHS1, ECM1, EDA, EDAR, EDARADD, EDC3, EDN1, EDN3, EDNRB, EEF1A2, EFEMP2, EFHB, EFHC1, EFHC2, EFNB1, EFTUD1, EFTUD2, EGF, EGR2, EHD3, EHHADH, EHMT1, EIF2AK2, EIF2AK3, EIF2AK4, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELAC2, ELANE, ELFN1, ELK1, ELMO2, ELN, ELOVL4, ELP2, ELP4, EMC1, EMD, EMG1, EML1, EMX2, ENG, ENPP1, ENTPD1, EOGT, EOMES, EP300, EP400, EPB41L1, EPB42, EPCAM, EPG5, EPHA2, EPHA4, EPHB4, EPM2A, EPRS, EPT1, ERAP2, ERBB2, ERBB2IP, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, ETV6, EVC, EVC2, EXOC4, EXOC6B, EXOSC3, EXOSC8, EXOSC9, EXPH5, EXT1, EXT2, EXTL3, EYA1, EYA4, EYS, EZH2, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FA2H, FADD, FAH, FAM111A, FAM126A, FAM179B, FAM183A, FAM20C, FAM222A, FAM46A, FAM58A, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FARSB, FAS, FASLG, FASN, FASTKD2, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBN3, FBP1, FBXL4, FBXO11, FBXO28, FBXO31, FBXW11, FBXW4, FBXW7, FCN3, FDX1L, FDXR, FECH, FER, FERMT1, FERMT3, FEZF1, FGA, FGB, FGD1, FGD4, FGF10, FGF12, FGF13, FGF17, FGF23, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FGG, FH, FHL1, FHL2, FIG4, FITM2, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLCN, FLG, FLG2, FLII, FLNA, FLNB, FLNC, FLRT3, FLT4, FLVCR1, FLVCR2, FMN2, FMO3, FMR1, FOLR1, FOXA2, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXH1, FOXI1, FOXL2, FOXN1, FOXP1, FOXP2, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRG1, FRMD4A, FRMD7, FRMPD4, FRRS1L, FSHR, FTCD, FTL, FTO, FTSJ1, FUCA1 , FUK, FUT8, FXN, FXYD2, FZD10, FZD2, G6PC, G6PC3, G6PD, GAA, GABBR2, GABRA1, GABRA3, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GABRG3, GABRQ, GABRR1, GABRR3, GAD1, GAL, GALC, GALE, GALK1, GALM, GALNS, GALNT14, GALNT2, GALNT3, GALT, GAMT, GAN, GARS, GAS1, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCM2, GCNT3, GCSH, GDAP1, GDF1, GDF3, GDF5, GDF6, GDI1, GDNF, GEMIN4, GFAP, GFER, GFI1, GFM1, GFM2, GFPT1, GH1, GINS1, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLG1, GLI1, GLI2, GLI3, GLIS3, GLRA1, GLRA4, GLRB, GLRX5, GLS, GLTSCR1, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNAI1, GNAI3, GNAO1, GNAQ, GNAS, GNB1, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOLGA2, GORAB, GOSR2, GP1BA, GP1BB, GP6, GP9, GPAA1, GPC3, GPC4, GPC6, GPD1, GPD1L, GPHN, GPI, GPR161, GPR179, GPR34, GPSM2, GPT2, GPX4, GRHL3, GRHPR, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM6, GRM7, GRM8, GRN, GSN, GSPT2, GSR, GSS, GSTZ1, GTF2E2, GTF2H5, GTF2IRD1, GTPBP2, GTPBP3, GUCY1A3, GUCY2C, GUCY2D, GUF1, GUSB, GYG1, GYG2, GYS1, GYS2, H3F3A, H3F3B, H6PD, HAAO, HACE1, HADH, HADHA, HADHB, HAL, HAND2, HARS2, HAX1, HBA1, HBA2, HBB, HCCS, HCFC1, HCN1, HCN2, HCN4, HDAC1, HDAC4, HDAC8, HECW2, HELZ, HELZ2, HEPACAM, HERC1, HERC2, HES7, HESX1, HEXA, HEXB, HFE, HGD, HGSNAT, HHAT, HIBCH, HIC1, HINT1, HIP1, HIRA, HIST1H1E, HIVEP2, HK1, HLCS, HMBS, HMGA2, HMGB1, HMGB3, HMGCL, HMGCS2, HMX1, HNF1A, HNF1B, HNF4A, HNRNPH1, HNRNPH2, HNRNPK, HNRNPL, HNRNPR, HNRNPU, HOXA1, HOXA11, HOXA13, HOXA2, HOXC13, HOXD13, HPD, HPDL, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPSE2, HRAS, HRG, HS6ST1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPB1, HSPB11, HSPB8, HSPD1, HSPG2, HTR1A, HTRA2, HUWE1, HYDIN, HYLS1, HYOU1, IARS, IARS2, IBA57, ICE2, ICK, ICOS, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNGR1, IFNGR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, IFT81, IGF1, IGF1R, IGF2, IGFBP4, IGFBP7, IGHMBP2, IGLL1, IGSF1, IGSF9, IHH, IKBKAP, IKBKB, IL10, IL10RA, IL11RA, IL12A, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL17RD, IL1RAPL1, IL1RN, IL20RA, IL21, IL21R, IL23R, IL27RA, IL2RA, IL2RG, IL7R, ILF2, ILK, IMPAD1, IMPDH1, INA, INF2, INO80, INPP4A, INPP5E, INPP5K, INPPL1, INS, INSL3, INSR, INTS6, INTU, INVS, IQCB1, IQSEC1, IQSEC2, IRAK4, IRF2BP2, IRF2BPL, IRF3, IRF4, IRF6, IRF7, IRF8, IRX4, ISCA1, ISCA2, ISCU, ISG15, ISPD, ITGA2, ITGA2B, ITGA3, ITGA5, ITGA6, ITGA7, ITGA8, ITGB1BP2, ITGB2, ITGB3, ITGB4, ITGB6, ITPA, ITPR1, IVD, IYD, JAG1, JAGN1, JAK3, JAM3, JMJD1C, JPH2, JUP, KANK1, KANSL1, KARS, KAT2B, KAT6A, KAT6B, KAT8, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA5 , KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNE1, KCNE2, KCNE5, KCNH1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNJ2, KCNJ5, KCNJ6, KCNJ8, KCNK3, KCNK9, KCNMA1, KCNN4, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD1, KCTD13, KCTD3, KCTD7, KDM1A, KDM2B, KDM5B, KDM5C, KDM6A, KDSR, KIAA0196, KIAA0226, KIAA0556, KIAA0586, KIAA0753, KIAA1033, KIAA1109, KIAA1161, KIAA1279, KIAA1715, KIAA2022 (NEXMIF), KIDINS220, KIF11, KIF14, KIF1A, KIF21A, KIF22, KIF23, KIF2A, KIF4A, KIF5A, KIF7, KIRREL3, KISS1, KISS1R, KIT, KITLG, KLF1, KLF11, KLF13, KLHL15, KLHL24, KLHL40, KLHL41, KLHL7, KLHL9, KLKB1, KLLN, KLRC4, KMT2A (MLL), KMT2B, KMT2C, KMT2D, KNL1, KPNA7, KPTN, KRAS, KRIT1, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT8, KRT83, KRT9, KYNU, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE, LARP7, LARS, LARS2, LAS1L, LAT, LBR, LCA5, LCK, LDB3, LDHA, LDLR, LEFTY2, LEMD3, LEO1, LETM1, LFNG, LGI1, LGI4, LHCGR, LHX1, LHX3, LHX4, LIAS, LIFR, LIG1, LIG4, LIMK1, LIMS2, LINGO1, LINS, LIPA, LIPN, LIPT1, LIPT2, LITAF, LMAN1, LMAN2L, LMBR1, LMBRD1, LMNA, LMNB1, LMNB2, LMOD2, LMOD3, LMX1B, LNPEP, LONP1, LONRF3, LOR, LPIN1, LPIN2, LPL, LRAT, LRBA, LRFN2, LRIT3, LRP2, LRP4, LRP5, LRPPRC, LRRC56, LRRC59, LRRC6, LRRC8A, LRSAM1, LTBP2, LTBP4, LTC4S, LYRM4, LYRM7, LYST, LZTFL1, LZTR1, MAB21L1, MACF1, MAD2L2, MADD, MAF, MAFB, MAG, MAGED2, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MANF, MAOA, MAP1B, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K15, MAP3K7, MAP7D2, MAPK1, MAPK10, MAPK3, MAPRE2, MAPT, MARS, MARS2, MASP1, MASP2, MAST1, MASTL, MAT1A, MATN3, MATN4, MBD5, MBOAT7, MBTPS2, MC2R, MC4R, MCCC1, MCCC2, MCEE, MCFD2, MCIDAS, MCM3AP, MCM4, MCOLN1, MCPH1, MCTP2, MDH2, MDN1, ME2, MECOM, MECP2, MECR, MED12, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2A, MEF2C, MEFV, MEGF10, MEGF8, MEIS2, MEN1, MEOX1, MESP2, METTL23, MFF, MFHAS1, MFN2, MFSD2A, MFSD8, MGAT1, MGAT2, MGLL, MGME1, MGP, MIB1, MICAL1, MICU1, MID1, MID2, MIPEP, MITF, MKKS, MKL2, MKS1, MLC1, MLIP, MLLT3, MLX, MLXIPL, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP13, MMP14, MMP2, MMP9, MN1, MNX1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPDZ, MPI, MPL, MPLKIP, MPP7, MPV17, MPZ, MRAP, MRE11A, MRI1, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRPS7, MRS2, MS4A1, MSL3, MSMO1, MSN, MSTO1, MSX1, MSX2, MTFMT, MTHFR, MTHFS, MTM1, MTMR14, MTMR2, MTMR8, MTO1, MTOR, MTPAP, MTR, MTRR, MTSS1, MTSS1L, MTTP, MUSK, MUT, MVK, MXRA5, MXRA8, MYBPC1, MYBPC3, MYCN, MYD88, MYF5, MYF6, MYH1, MYH10, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH7B, MYH8, MYH9, MYL2, MYL3, MYLK2, MYO15A, MYO18B, MYO1F, MYO1H, MYO5A, MYO5B, MYO7A, MYO7B, MYO9A, MYO9B, MYOCD, MYOT, MYPN, MYRF, MYSM1, MYT1L, NAA10, NAA15, NACC1, NADK2, NADSYN1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NBAS, NBEA, NBEAL2, NBN, NCAPD2, NCAPD3, NCAPG2, NCF2, NCOR1, NDE1, NDN, NDNL2, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8, NDUFB11, NDUFB3, NDUFB5, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NECAP1, NEDD4L, NEFL, NEK1, NEK10, NEK8, NEK9, NELFA, NEPRO, NEU1, NEUROD1, NEUROD2, NEUROG3, NEXN, NF1, NF2, NFASC, NFATC3, NFE2L2, NFIA, NFIB, NFIX, NFKB1, NFKB2, NFKBIA, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHLRC2, NHP2, NHS, NID1, NIN, NIPA1, NIPA2, NIPAL4, NIPBL, NKX2-1, NKX2-2, NKX2-5, NKX2-6, NKX3-2, NKX6-2, NLGN1, NLGN4X, NLRC4, NLRP12, NLRP2, NLRP3, NME8, NMNAT1, NNT, NODAL, NOG, NOL3, NONO, NOP10, NOS3, NOTCH1, NOTCH2, NOTCH3, NPAP1, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NPRL2, NPRL3, NR0B1, NR1H4, NR2E1, NR2E3, NR2F1, NR2F2, NR3C1, NR3C2, NR5A1, NRAP, NRAS, NRCAM, NRG1, NRIP1, NRXN1, NRXN3, NSD1, NSDHL, NSMF, NSUN2, NT5C2, NTNG1, NTRK1, NTRK2, NUBPL, NUP107, NUP133, NUP214, NUP62, NUP88, NUS1, NVL, NYX, OAT, OBSCN, OBSL1, OCA2, OCLN, OCRL, OFD1, OGDH, OGDHL, OGT, OPA1, OPA3, OPHN1, OPLAH, ORAI1, ORC1, ORC4, ORC6, OSGEP, OSMR, OSTM1, OTC, OTOG, OTUD6B, OTX2, OXA1L, OXCT1, P3H1, P4HB, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PALB2, PAM, PAM16, PANK2, PAPSS2, PARK2, PARN, PARS2, PAX2, PAX3, PAX4, PAX6, PAX8, PBX1, PC, PCBD1, PCCA, PCCB, PCDH11X, PCDH12, PCDH15, PCDH19, PCDH7, PCDHB4, PCGF2, PCK1, PCK2, PCLO, PCNA, PCNT, PCSK1, PCYT1A, PDCD10, PDE10A, PDE4D, PDE5A, PDE6D, PDGFB, PDGFRA, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDYN, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHC1, PHEX, PHF21A, PHF3, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKB, PHKG2, PHOX2B, PHYH, PI4KA, PIAS4, PIBF1, PIEZO1, PIEZO2, PIGA, PIGC, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIH1D3, PIK3AP1, PIK3CA, PIK3CB, PIK3CD, PIK3R1, PIK3R2, PINK1, PIP5K1C, PISD, PITX1, PITX2, PKD1, PKD2, PKDCC, PKHD1, PKLR, PKP1, PKP2, PLA2G6, PLAA, PLAGL1, PLCB1, PLCB4, PLCE1, PLCG2, PLD1, PLEC, PLEKHG2, PLEKHG4, PLEKHG5, PLG, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLVAP, PLXNA3, PLXND1, PMM2, PMP22, PMPCA, PMPCB, PNKD, PNKP, PNLIP, PNP, PNPLA1, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, PODXL, POGZ, POLA1, POLE, POLG, POLG2, POLH, POLQ, POLR1A, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, PON1, PON2, PON3, POP1, POR, PORCN, POU1F1, PPA2, PPAP2C, PPARGC1A, PPCS, PPIB, PPM1B, PPM1D, PPM1K, PPOX, PPP1CB, PPP1R12A, PPP1R13B, PPP1R13L, PPP1R15B, PPP1R21, PPP1R3C, PPP1R3F, PPP2CA, PPP2R1A, PPP2R5A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PRDM16, PRDM5, PRDM8, PRDX1, PREPL, PRF1, PRG4, PRICKLE1, PRICKLE2, PRIMA1, PRKAG2, PRKAR1A, PRKCB, PRKCD, PRKCE, PRKCG, PRKD1, PRKDC, PRKG2, PRMT1, PRMT7, PROC, PRODH, PROK2, PROKR2, PROP1, PROS1, PROSC, PRPH, PRPS1, PRRT2, PRRX1, PRSS12, PRSS56, PRTN3, PRUNE, PRX, PSAP, PSAT1, PSEN1, PSMB9, PSMC3IP, PSMD12, PSPH, PSTPIP1, PTCH1, PTCH2, PTCHD1, PTCRA, PTDSS1, PTEN, PTF1A, PTH, PTH1R, PTHLH, PTPLA, PTPN11, PTPN22, PTPN23, PTPN4, PTPRC, PTPRD, PTPRT, PTRF, PTRH2, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PVRL1, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS, QDPR, QRICH1, QRSL1, RAB11A, RAB11B, RAB18, RAB23, RAB27A, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAC1, RAC2, RAC3, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAF1, RAG1, RAG2, RAI1, RALGAPA1, RALGAPB, RANBP2, RAP1A, RAP1B, RAPSN, RARB, RARS, RARS2, RASA1, RASA2, RASGRP1, RASGRP2, RB1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBM10, RBM20, RBM28, RBM8A, RBPJ, RD3, RECQL4, REEP1, RELA, RELN, REN, RERE, RET, RETREG1, REV3L, RFC2, RFT1, RFWD3, RFX5, RFX6, RFXANK, RGR, RHAG, RHOBTB2, RILP, RIN2, RINT1, RIPK1, RIPK4, RIPPLY2, RIT1, RLBP1, RLIM, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF168, RNF213, RNF216, RNPC3, ROBO1, ROBO3, ROGDI, ROR2, RORA, RORB, RP1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL15, RPL26, RPL35A, RPL5, RPN2, RPS10, RPS19, RPS23, RPS24, RPS26, RPS28, RPS29, RPS6KA1, RPS6KA3, RPS6KA6, RPS6KC1, RPS7, RPSA, RRAS, RREB1, RRM2B, RS1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPRY1, RTEL1, RTN4IP1, RTTN, RUNX1, RUNX2, RUSC2, RYR1, RYR2, RYR3, SACS, SALL1, SALL4, SAMD9, SAMD9L, SAMHD1, SAR1B, SARDH, SARS2, SASH3, SASS6, SATB2, SBDS, SBF1, SBF2, SC5D, SCAF1, SCARB2, SCARF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SCNM1, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SDR9C7, SEC23B, SEC24C, SEC24D, SECISBP2, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA4G, SEMA5A, SEPN1, SEPSECS, SERAC1, SERPINA1, SERPINB8, SERPINC1, SERPINF1, SERPING1, SERPINH1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETX, SF3B1, SF3B4, SFTPA2, SFTPB, SFTPC, SFTPD, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SGSH, SH2B1, SH2D1A, SH3BP2, SH3PXD2B, SH3TC2, SHANK1, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SHOX, SHPK, SHPRH, SHROOM2, SHROOM4, SI, SIAE, SIGMAR1, SIK1, SIL1, SIM1, SIN3A, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC10A2, SLC10A7, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5 , SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC24A1, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC25A47, SLC25A53, SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC27A4, SLC27A5, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC30A9, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC35F5, SLC37A4, SLC39A13, SLC39A14, SLC39A4, SLC39A5, SLC39A8, SLC3A1, SLC40A1, SLC45A1, SLC45A2, SLC46A1, SLC4A1, SLC4A10, SLC4A11, SLC4A4, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC5A5, SLC5A7, SLC6A1, SLC6A13, SLC6A17, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A5, SLC7A7, SLC7A9, SLC9A1, SLC9A3, SLC9A6, SLC9A9, SLCO2A1, SLFN14, SLIT3, SLITRK6, SLURP1, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMARCA1, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCD2, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMN1, SMO, SMOC1, SMPD1, SMS, SMURF1, SMYD1, SNAI2, SNAP25, SNAP29, SNAPC3, SNIP1, SNRPB, SNRPN, SNTA1, SNX14, SNX27, SOD1, SOD3, SON, SOS1, SOS2, SOX10, SOX11, SOX18, SOX2, SOX3, SOX4, SOX5, SOX9, SP110, SP7, SPAG1, SPARC, SPAST, SPATA5, SPDL1, SPECC1L, SPEG, SPEN, SPG11, SPG20, SPG7, SPI1, SPINK5, SPINT2, SPOCK1, SPON1, SPR, SPRED1, SPRY4, SPTA1, SPTAN1, SPTB, SPTBN2, SPTBN4, SPTBN5, SPTLC1, SQSTM1, SRCAP, SRD5A2, SRD5A3, SRP54, SRPK2, SRPX2, SRSF11, SRY, SSR4, SSTR5, ST14, ST3GAL3, ST3GAL5, ST5, ST7, ST8SIA2, STAB2, STAC3, STAG1, STAG2, STAMBP, STAR, STARD9, STAT1, STAT3, STAT4, STIL, STIM1, STK11, STK4, STRA6, STRADA, STS, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, STYXL1, SUCLA2, SUCLG1, SUCLG2, SUCO, SUFU, SUGCT, SULF1, SUMF1, SUOX, SUPT5H, SURF1, SUV420H1, SV2A, SYN1, SYN2, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYNM, SYP, SYT1, SYT14, SYT2, SZT2, TAB2, TAC3, TACO1, TACR3, TAF1, TAF1A, TAF2, TAF6, TALDO1, TANGO2, TAOK1, TAOK2, TAPT1, TARS2, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBL2, TBR1, TBX1, TBX15, TBX18, TBX19, TBX2, TBX20, TBX22, TBX3, TBX4, TBX5, TBX6, TBXA2R, TBXAS1, TCAP, TCEB3, TCF12, TCF20, TCF3, TCF4, TCHH, TCIRG1, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TDGF1, TDP2, TECPR2, TECR, TEK, TELO2, TERT, TET2, TFAP2A, TFAP2B, TFB1M, TFE3, TFG, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TGIF1, TGM1, TGM5, TH, THAP11, THAP7, THBD, THOC2, THOC6, THPO, THRA, THRB, TIAM1, TIMM50, TIMM8A, TIMMDC1, TINF2, TJP2, TK2, TKT, TLK2, TLL1, TLN1, TM4SF20, TMCO1, TMEM106B, TMEM107, TMEM126A, TMEM126B, TMEM138, TMEM147, TMEM165, TMEM173, TMEM187, TMEM199, TMEM216, TMEM231, TMEM237, TMEM240, TMEM260, TMEM38B, TMEM43, TMEM5, TMEM67, TMEM70, TMEM8C, TMLHE, TMPO, TMPRSS15, TMTC3, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFSF11, TNK2, TNKS, TNN, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNNT3, TNPO3, TNRC6B, TNXB, TOE1, TONSL, TOP3A, TOPBP1, TOR1A, TOR1AIP1, TP53BP2, TP53RK, TP63, TP73, TPI1, TPK1, TPM1, TPM2, TPM3, TPO, TPP1, TPRKB, TRAF3IP1, TRAF3IP2, TRAF7, TRAIP, TRAK1, TRAP1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC4, TRAPPC6B, TRAPPC9, TREM2, TREML1, TREX1, TRHR, TRIM2, TRIM3, TRIM32, TRIM37, TRIM63, TRIM8, TRIO, TRIP11, TRIP12, TRIP13, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPA1, TRPM1, TRPM3, TRPM4, TRPM6, TRPS1, TRPV3, TRPV4, TRPV6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSHZ3, TSPAN12, TSPAN7, TSPEAR, TSPYL1, TSR2, TTC1, TTC19, TTC21B, TTC37, TTC7A, TTC8, TTI1, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP5, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TXN2, TXNRD2, TYK2, TYMP, TYR, TYROBP, UBA1, UBA2, UBA5, UBAC2, UBAP1, UBB, UBE2A, UBE2T, UBE3A, UBE3B, UBN2, UBR1, UBR2, UBR4, UBR5, UBTF, UCP2, UFC1, UFD1L, UFM1, UGDH, UGP2, UGT1A1, UMOD, UMPS, UNC13A, UNC13D, UNC5B, UNC80, UPB1, UPF3B, UPK3A, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROD, UROS, USB1, USH1C, USH2A, USP15, USP18, USP33, USP4, USP7, USP9X, UVSSA, VAC14, VAMP1, VAMP2, VANGL1, VANGL2, VAPB, VARS, VARS2, VCAN, VCL, VCP, VDR, VEGFC, VHL, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13D, VPS33B, VPS45, VPS51, VPS53, VRK1, VTA1, VWF, WAC, WARS2, WAS, WBP11, WDPCP, WDR11, WDR19, WDR26, WDR35, WDR37, WDR4, WDR45, WDR45B, WDR5, WDR60, WDR62, WDR73, WDR81, WFS1, WHSC1, WIPI2, WNK1, WNT1, WNT10A, WNT10B, WNT3, WNT5A, WNT7A, WRAP53, WRN, WT1, WWOX, XDH, XIAP, XIRP1, XIRP2, XK, XPA, XPC, XPNPEP3, XPO1, XPR1, XRCC1, XRCC2, XRCC4, XYLT1, XYLT2, YAP1, YARS2, YME1L1, YWHAE, YWHAG, YWHAZ, YY1, ZAN, ZAP70, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZDHHC15, ZDHHC16, ZDHHC9, ZEB1, ZEB2, ZFHX4, ZFP57, ZFPM2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND10, ZMYND11, ZMYND12, ZNF141, ZNF148, ZNF283, ZNF324, ZNF335, ZNF341, ZNF407, ZNF41, ZNF423, ZNF462, ZNF469, ZNF519, ZNF592, ZNF674, ZNF711, ZNF81, ZNHIT3, ZSCAN25, ZSWIM6

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Assist with treatment/management decisions
Recurrence risk assessment

Notes:

The NICUXpress^™ Panel evaluates nearly 3,500 genes associated with disorders impacting patients in the newborn to early childhood period of life. Genes on this panel are associated with neurodevelopmental disorders, neuromuscular disorders, metabolic disorders, nuclear mitochondrial disorders, multiple congenital anomalies, congenital heart disease, neonatal sex development disorders, immunodeficiency disorders, congenital ichthyosis, and epidermolysis bullosa.

This test has an expedited turnaround time* (TAT) of approximately 14 days. A verbal result is given within 7 calendar days after the start of testing and will include pathogenic and/or likely pathogenic variants in known disease-causing genes. A written report including all clinically relevant, confirmed variants will be reported within approximately 14 days after the start of testing.

Because of the rapid TAT, blood or DNA samples on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing.

This test requires approval by GeneDx. Please email Xpress@GeneDx.com to discuss prior to sending in samples.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TL27

Turnaround Time *:

Verbal result in 7 days, final report ~2 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81443x1

New York Approved

Yes

ABN Required

For price inquiries please email zebras@genedx.com

**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.

XomeDxXpress^® - WES with a Verbal Result in 7 Days

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

The XomeDxXpress® test (Trio only) is whole exome sequencing with an expedited turnaround time (TAT) of approximately 2 weeks. A verbal result is given within 7 calendar days after the start of testing and will include pathogenic and/or expected pathogenic variants in known disease-causing genes (Human Genome Mutation Database genes). A written report including all clinically relevant, confirmed variants will be reported within approximately 2 weeks after the start of testing. Because of the rapid TAT, blood or DNA samples on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires approval by GeneDx; please email Xpress@GeneDx.com to discuss prior to sending in samples.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

896

Turnaround Time *:

Verbal result in 7 days, final report ~2 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415, 81416x2

New York Approved

Yes

ABN Required

References

Bamshad et al. (2011) Nature Reviews Genetics. 12:745-755
Green et al. (2013) Genet Med 15:565-57.

XomeDx^®Priority - WES with Written Results in 3-4 Weeks

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

The XomeDxPriority test (trio only) is clinical exome sequencing with a prioritized turnaround time (TAT) of approximately 3-4 weeks. Because of the rapid TAT, blood or DNA samples on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires approval by GeneDx; please email Xpress@GeneDx.com to discuss prior to sending in samples.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TF37

Turnaround Time *:

3-4 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x2

New York Approved

Yes

ABN Required

GenomeXpress - WGS with Verbal Results in 7 Days

Forms and Documents

Test Requisition Test Info Sheet Family Member Test Requisition

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

The GenomeXpress test is whole genome sequencing with an expedited turnaround time (TAT) of approximately 2 weeks. A verbal result is given within 7 calendar days after the start of testing and will include pathogenic and/or likely pathogenic variants in known disease-causing genes. A written report including all clinically relevant, confirmed variants will be reported within approximately 2 weeks after the start of testing. Because of the rapid TAT, blood on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires approval by GeneDx; please email Xpress@GeneDx.com to discuss prior to sending in samples.

Insurance billing not accepted

Ordering

Test Code:

TH78

Turnaround Time *:

Verbal result in 7 days, final report ~2 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Please contact our Xpress Team at xpress@genedx.com to discuss.

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81425x1, 81426x2

New York Approved

Yes

ABN Required

Customize

Slice - Xpanded Xpress - Slice Xpanded with a Verbal Result in 7 Days

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Analysis limited to a pre-approved list of one or more genes submitted by provider via “Customize” button above.
Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

The Custom SliceXpanded Xpress (trio preferred) is whole exome sequencing with analysis limited to client selected genes with an expedited turnaround time (TAT) of approximately 2 weeks. A verbal result is given within 7 calendar days after the start of testing and will include pathogenic and/or likely pathogenic variants in known disease-causing genes. A written report including all clinically relevant, confirmed variants will be issued within approximately 2 weeks after the start of testing. Because of the rapid TAT, blood or DNA samples on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires pre-approval by GeneDx via provider submission of one or more genes through the online SliceTool, accessed by clicking Customize above. Please email Xpress@GeneDx.com prior to sending in samples.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TG71

Turnaround Time *:

Verbal result in 7 days, final report ~2 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies by Genes

New York Approved

Yes

ABN Required

Customize

Slice - Xpanded Priority - Slice Xpanded with Written Results in 3-4 Weeks)

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Analysis limited to a pre-approved list of one or more genes submitted by provider via “Customize” button above.
Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

The Custom SliceXpanded Priority (trio preferred) is whole exome sequencing with analysis limited to client selected genes with a prioritized turnaround time (TAT) of approximately 3-4 weeks. Because of the rapid TAT, blood or DNA samples on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires pre-approval by GeneDx via provider submission of one or more genes through the online SliceTool, accessed by clicking Customize above. Please email Xpress@GeneDx.com prior to sending in samples.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TG75

Turnaround Time *:

3-4 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies by Genes

New York Approved

Yes

ABN Required

Whole Exome Sequencing (WES)

XomeDx^® - Trio

Forms and Documents

Test Requisition Form Family Member Test Requisition Test Info Sheet Letter of Medical Necessity

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

XomeDx, or exome sequencing (ES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual and is best suited for patients who have a genetic condition that routine genetic testing has not been able to identify. The XomeDx test targets exons, which are the protein-coding regions of the human genome. Exons are captured and sequenced using massively parallel sequencing.

XomeDx and XomeDxPlus test reports will include analysis of ACMG secondary findings in the proband unless the proband is opted-out. The presence of any secondary finding(s) reported for the proband will be provided for all relatives tested by XomeDx or XomeDxPlus. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx test.

Family member samples MUST BE RECEIVED WITHIN 3 WEEKS. Ordered test codes may require adjusting to appropriately correspond with relative samples received. A change in the ordered test will impact billing, including prior benefits investigations.

To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample:

Relative name
Relative DOB
Proband's name
Proband's DOB
Relative's relationship to proband

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

561a

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x2

New York Approved

Yes

ABN Required

Yes

XomeDx^® - Duo

Forms and Documents

Test Requisition Form Family Member Test Requisition Test Info Sheet Letter of Medical Necessity

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample:

Relative name
Relative DOB
Proband's name
Proband's DOB
Relative's relationship to proband

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

561e

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x1

New York Approved

Yes

ABN Required

Yes

XomeDx^® - Proband

Forms and Documents

Test Requisition Form Family Member Test Requisition Test Info Sheet Letter of Medical Necessity

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

561b

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415

New York Approved

Yes

ABN Required

Yes

References

Singleton AB. Exome sequencing: a transformative technology. Lancet Neurol. 2011 Oct;10(10):942-6.
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing
Ku CS, Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet. 2011 Apr;129(4):351-70. Epub 2011 Feb 18.
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27;12(11):745-55.

XomeDx^®Plus - Trio

Forms and Documents

Test Requisition Form Family Member Test Requisition Test Info Sheet Letter of Medical Necessity

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

XomeDxPlus includes whole exome sequencing as well as mitochondrial genome sequencing and deletion testing. For more information on the mitochondrial genome sequencing and deletion component of the XomeDxPlus testing, please visit our neurology/mitochondrial genetics page on our website. XomeDxPlus is best suited for individuals with clinical features suggesting a mitochondrial disorder.

To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample:

Relative name
Relative DOB
Proband's name
Proband's DOB
Relative's relationship to proband

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

690a

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415, 81416x2, 81460

New York Approved

Yes

ABN Required

Yes

XomeDx^®Plus - Duo

Forms and Documents

Test Requisition Form Family Member Test Requisition Test Info Sheet Letter of Medical Necessity

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample:

Relative name
Relative DOB
Proband's name
Proband's DOB
Relative's relationship to proband

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

690e

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x1, 81460x1

New York Approved

Yes

ABN Required

Yes

XomeDx^®Plus - Proband

Forms and Documents

Test Requisition Form Family Member Test Requisition Test Info Sheet Letter of Medical Necessity

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

690b

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415, 81460

New York Approved

Yes

ABN Required

Yes

References

Singleton AB. Exome sequencing: a transformative technology. Lancet Neurol. 2011 Oct;10(10):942-6.
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing
Ku CS, Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet. 2011 Apr;129(4):351-70. Epub 2011 Feb 18.
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27;12(11):745-55.

XomeDxXpress^® - WES with a Verbal Result in 7 Days

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

896

Turnaround Time *:

Verbal result in 7 days, final report ~2 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415, 81416x2

New York Approved

Yes

ABN Required

References

Bamshad et al. (2011) Nature Reviews Genetics. 12:745-755
Green et al. (2013) Genet Med 15:565-57.

XomeDx^®Priority - WES with Written Results in 3-4 Weeks

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TF37

Turnaround Time *:

3-4 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x2

New York Approved

Yes

ABN Required

XomeDx^®Xpert

Forms and Documents

Test Requisition Form Family Member Test Requisition Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

This test is an option for patients who have had previous exome or genome testing at another clinical laboratory and where results may not have explained the patient’s condition or where a second opinion by GeneDx is wanted. For optimal results, exome sequencing will be repeated from a new sample, not just reinterpretation of previous data. This test can be performed on a singleton, duo, or trio. A new sample and a copy of the previous report are required to initiate testing.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TG56

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1

New York Approved

Yes

ABN Required

XomeDx^®Insights

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Clinical Utility:

Learn about medically relevant risk to have or develop certain genetic conditions

Notes:

XomeDxInsights is an exome sequencing (ES) service designed for generally healthy adults who would like to learn about medically relevant changes in their genetic code, and their risk to have or develop certain genetic conditions. This test provides information in three primary health categories: personal health and reproductive risk.
Individuals may opt out of personal health information from some central nervous system (CNS) diseases by noting opt-out on the consent form. Contact us for more information.

Please note that XomeDxInsights requires two tubes of blood.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TH90

Turnaround Time *:

8-12 weeks

Preferred Specimen:

8-10 mL Blood - Lavender Top Tube (2 tubes)

Billing

CPT Codes** :

81415

New York Approved

Yes

ABN Required

Yes

References

Amiri-Yekta et al. (2016) Hum. Reprod. 31 (12):2872-2880 (PMID: 27798045)
Bamshad et al. (2011) Nature Reviews. Genetics 12 (11):745-55 (PMID: 21946919)
Committee Opinion No. 690 (2017) Obstet Gynecol 129 (3):e35-e40 (PMID: 28225425)
Edwards et al. (2015) Obstetrics And Gynecology 125 (3):653-62 (PMID: 25730230)
Gambin et al. (2015) Genome Med 7 (1):54 (PMID: 26195989)
Ji et al.(2016) J Mol Diag. 18(3):438-445 (PMID: 26947514)
Lazarou et al. (1998) JAMA 279 (15):1200-5 (PMID: 9555760)
Linderman et al. (2016) J Pers Med 6 (2): (PMID: 27023617)
Patiño et al. (2017) Hum. Reprod. 1-9 (PMID: 28505269)
Plumpton et al. (2016) Pharmacoeconomics 34 (8):771-93 (PMID: 26984520)
Qiao et al. (2016) Mol. Hum. Reprod. (PMID: 26826164)
Qin et al. (2015) Hum. Reprod. Update 21 (6):787-808 (PMID: 26243799)
Ray et al. (2017) Clin. Genet. 91 (2):217-232 (PMID: 27779748)
Relling and Evans. (2015) Nature. 15:526(7573): 343-350 (PMID: 26469045)
Retterer et al. (2016) Genet. Med. 18 (7):696-704 (PMID: 26633542)
Richards et al. (2015) Genetics In Medicine 17 (5):405-24 (PMID: 25741868)
Sallevelt et al. (2016) Genet. Med. : (PMID: 27787503)
Spear et al. (2001) Trends Mol Med 7 (5):201-4 (PMID: 11325631)
Tsurusaki et al. (2014) Clin. Genet. 85 (6):592-4 (PMID: 23826986)
Van Driest et al. (2014) Clin Pharmacol Ther. 95(4): 423-431 (PMID: 24253661)

XomeDx^®Prenatal - Targeted

Forms and Documents

Test Requisition Family Member Test Requisition Test Info Sheet

Test Details

Clinical Utility:

Establishing a molecular diagnosis in a fetus with abnormal ultrasound findings.

Notes:

With a turnaround time (TAT) of 3-4 weeks, the fetal specimen and specimens from both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires approval by GeneDx before ordering; please e-mail WESPrenatal@genedx.com to discuss cases prior to submitting samples.

The XomeDxPrenatal Targeted fetal report will include medically relevant pathogenic or likely pathogenic variants in genes expected to be related to the reported fetal phenotype. Variants of uncertain significance may be reported if there is compelling evidence to suggest clinical significance.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

959

Turnaround Time *:

3-4 weeks

Preferred Specimen:

30 mL Amniotic Fluid

Alternative Specimen:

30 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 15 µg DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x2

New York Approved

Yes

ABN Required

XomeDx^®Prenatal - Comprehensive

Forms and Documents

Test Requisition Family Member Test Requisition Test Info Sheet

Test Details

Clinical Utility:

Establishing a molecular diagnosis in a fetus with abnormal ultrasound findings

Notes:

The XomeDxPrenatal Comprehensive fetal report will also include medically relevant pathogenic or likely pathogenic variants in genes expected to be related to the reported fetal phenotype. Variants of uncertain significance may be reported if there is compelling evidence to suggest clinical significance. In addition, variants of uncertain significance in novel candidate genes may be reported.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

J499

Turnaround Time *:

3-4 weeks

Preferred Specimen:

30 mL Amniotic Fluid

Alternative Specimen:

30 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 15 µg DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415, 81416x2, 81265

New York Approved

Yes

ABN Required

ReproXpanded - Individual

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Clinical Utility:

A previous pregnancy loss or deceased child for which there is no DNA available from the proband
Unexplained infertility
Multiple miscarriage of unknown etiology

Notes:

ReproXpanded is a targeted test that uses whole exome capture, NextGeneration sequencing, and targeted analysis to assess for carrier status in all currently known disease genes. ReproXpanded can be used to assess reproductive risk in couples and individuals who have already completed standard carrier screening.

Each individual is analyzed individually and receives a ReproXpanded report. If both members of a couple are submitted simultaneously, both partners can also be analyzed for shared genetic risk.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

J776

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415

New York Approved

Yes

ABN Required

References

Amiri-Yekta et al. (2016) Hum. Reprod. 31 (12):2872-2880 (PMID: 27798045)
Committee Opinion No. 690 (2017) Obstet Gynecol 129 (3):e35-e40 (PMID: 28225425)
Edwards et al. (2015) Obstetrics And Gynecology 125 (3):653-62 (PMID: 25730230)
Gambin et al. (2015) Genome Med 7 (1):54 (PMID: 26195989)
Patiño et al. (2017) Hum. Reprod. 1-9 (PMID: 28505269)
Qiao et al. (2016) Mol. Hum. Reprod. (PMID: 26826164)
Qin et al. (2015) Hum. Reprod. Update 21 (6):787-808 (PMID: 26243799)
Ray et al. (2017) Clin. Genet. 91 (2):217-232 (PMID: 27779748)
Retterer et al. (2016) Genet. Med. 18 (7):696-704 (PMID: 26633542)
Richards et al. (2015) Genetics In Medicine 17 (5):405-24 (PMID: 25741868)
Sallevelt et al. (2016) Genet. Med. (PMID: 27787503)
Tsurusaki et al. (2014) Clin. Genet. 85 (6):592-4 (PMID: 23826986)
Yates et al. (2017) Genet. Med. (PMID: 28425981)

ReproXpanded - Couple

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Clinical Utility:

A previous pregnancy loss or deceased child for which there is no DNA available from the proband
Unexplained infertility
Multiple miscarriage of unknown etiology

Notes:

Each individual is analyzed individually and receives a ReproXpanded report. If both members of a couple are submitted simultaneously, both partners can also be analyzed for shared genetic risk.

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

J842

Turnaround Time *:

8-12 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1

New York Approved

Yes

ABN Required

References

Amiri-Yekta et al. (2016) Hum. Reprod. 31 (12):2872-2880 (PMID: 27798045)
Committee Opinion No. 690 (2017) Obstet Gynecol 129 (3):e35-e40 (PMID: 28225425)
Edwards et al. (2015) Obstetrics And Gynecology 125 (3):653-62 (PMID: 25730230)
Gambin et al. (2015) Genome Med 7 (1):54 (PMID: 26195989)
Patiño et al. (2017) Hum. Reprod. 1-9 (PMID: 28505269)
Qiao et al. (2016) Mol. Hum. Reprod. (PMID: 26826164)
Qin et al. (2015) Hum. Reprod. Update 21 (6):787-808 (PMID: 26243799)
Ray et al. (2017) Clin. Genet. 91 (2):217-232 (PMID: 27779748)
Retterer et al. (2016) Genet. Med. 18 (7):696-704 (PMID: 26633542)
Richards et al. (2015) Genetics In Medicine 17 (5):405-24 (PMID: 25741868)
Sallevelt et al. (2016) Genet. Med. (PMID: 27787503)
Tsurusaki et al. (2014) Clin. Genet. 85 (6):592-4 (PMID: 23826986)
Yates et al. (2017) Genet. Med. (PMID: 28425981)

XomeDx^® Subsequent Reanalysis (charged)

Forms and Documents

Test Requisition Form

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

This test option is appropriate for patients who have previously undergone XomeDx First Time Reanalysis at GeneDx (test code 660). We recommend waiting at least two years from the prior analysis before ordering a Reanalysis. Reanalysis involves reevaluation of reported variants from previous XomeDx tests and runs previously generated exome sequencing data through the current analysis pipeline with the intention of identifying causative variants through expansion of current disease gene knowledge and bioinformatics improvements.

Updated clinical information, if available, is requested to be included with the reanalysis order. Additional relatives may be submitted for segregation analysis by targeted testing at the time of reanalysis for no additional charge. This may further assist in variant interpretation and classification.

New York State residents: Unless consent to retain remaining sample following XomeDx testing was provided, an additional specimen from the proband and previously submitted relatives is required at the time of submitting an order for reanalysis to allow for confirmation of variants.

Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Dried Blood Spots | Buccal Swabs
Previous sample inquiries please email zebras@genedx.com

Lab Method:

Previously generated Next-Gen Sequencing Data

Ordering

Test Code:

947

Turnaround Time *:

8-12 weeks

Preferred Specimen:

No additional samples are required; New York state residents, see above.

Alternative Specimen:

No additional samples are required; New York state residents, see above.

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81417x1

New York Approved

Yes

ABN Required

Yes

XomeDx^® First Time Reanalysis (no charge)

Forms and Documents

Test Requisition Form

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

This test option is only appropriate if the patient previously had a XomeDx test (full exome analysis) at GeneDx. We recommend waiting at least two years from the original analysis before ordering a Reanalysis. Reanalysis involves reevaluation of reported variants from previous XomeDx tests and runs previously generated exome sequencing data through the current analysis pipeline with the intention of identifying causative variants through expansion of current disease gene knowledge base and bioinformatics improvements.

Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Dried Blood Spots | Buccal Swabs
Previous sample inquiries please email zebras@genedx.com

Lab Method:

Previously generated Next-Gen Sequencing Data

Ordering

Test Code:

660

Turnaround Time *:

8-12 weeks

Preferred Specimen:

No additional samples are required; New York state residents, see above.

Alternative Specimen:

No additional samples are required; New York state residents, see above.

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

N/A

New York Approved

Yes

ABN Required

XomeDx^®Fetal - Duo

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Disorders:

Fetus with ultrasound anomalies

Clinical Utility:

For exome on prenatal samples, both ongoing and deceased fetuses.
Proband-only, duo or trio analysis
Identification of underlying molecular cause of clinical diagnosis
Recurrence risk assessment

Notes:

Preliminary verbal results will not be provided for any of the prenatal testing options.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TK89e

Turnaround Time *:

8-12 weeks

Preferred Specimen:

30 mL Amniotic Fluid

Alternative Specimen:

30 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 15 µg DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x1

New York Approved

Yes

ABN Required

Yes

XomeDx^®Fetal - Trio

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Disorders:

Fetus with ultrasound anomalies

Clinical Utility:

For exome on prenatal samples, both ongoing and deceased fetuses.
Proband-only, duo or trio analysis
Identification of underlying molecular cause of clinical diagnosis
Recurrence risk assessment

Notes:

Preliminary verbal results will not be provided for any of the prenatal testing options.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TK89a

Turnaround Time *:

8-12 weeks

Preferred Specimen:

30 mL Amniotic Fluid

Alternative Specimen:

30 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 15 µg DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1, 81416x2

New York Approved

Yes

ABN Required

Yes

XomeDx^®Fetal - Proband

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Disorders:

Fetus with ultrasound anomalies

Clinical Utility:

For exome on prenatal samples, both ongoing and deceased fetuses.
Proband-only, duo or trio analysis
Identification of underlying molecular cause of clinical diagnosis
Recurrence risk assessment

Notes:

Preliminary verbal results will not be provided for any of the prenatal testing options.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TK89b

Turnaround Time *:

8-12 weeks

Preferred Specimen:

30 mL Amniotic Fluid

Alternative Specimen:

30 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 15 µg DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415x1

New York Approved

Yes

ABN Required

Yes

Whole Genome Sequencing (WGS)

GenomeSeqDx

Forms and Documents

Test Requisition Test Info Sheet Family Member Test Requisition

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample:

Relative name
Relative DOB
Proband's name
Proband's DOB
Relative's relationship to proband

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

J774

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Billing

CPT Codes** :

81425, 81426x2

New York Approved

Yes

ABN Required

References

Bamshad et al. (2011) Nature Reviews. Genetics 12 (11):745-55 (PMID: 21946919)
Lelieveld et al. (2015) Hum. Mutat. 36 (8):815-22 (PMID: 25973577)
Belkadi et al. (2015) Proc. Natl. Acad. Sci. U.S.A. 112 (17):5473-8 (PMID: 25827230)
Retterer et al. (2016) Genet. Med. 18 (7):696-704 (PMID: 26633542)
Richards et al. (2015) Genetics In Medicine 17 (5):405-24 (PMID: 25741868)

GenomeXpress - WGS with Verbal Results in 7 Days

Forms and Documents

Test Requisition Test Info Sheet Family Member Test Requisition

Test Details

Clinical Utility:

Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

Insurance billing not accepted

Ordering

Test Code:

TH78

Turnaround Time *:

Verbal result in 7 days, final report ~2 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Please contact our Xpress Team at xpress@genedx.com to discuss.

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81425x1, 81426x2

New York Approved

Yes

ABN Required

Slice

Customize

Slice - Single Gene (1 gene)

Forms and Documents

Test Requisition Form Test Info Sheet

Test Details

Clinical Utility:

For custom gene sequencing when not available elsewhere
Identification of underlying molecular cause of clinical diagnosis
Recurrence risk assessment

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TG70

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies By Gene

New York Approved

Yes

ABN Required

Yes

Customize

Slice - Multi-Gene (2-150 genes)

Forms and Documents

Medical Necessity Template Test Requisition Form Test Info Sheet

Test Details

Clinical Utility:

For smaller custom gene lists of 2-150 genes
For analysis of genes within regions of homozygosity detected by whole genome array
Identification of underlying molecular cause of clinical diagnosis
Recurrence risk assessment

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies by Genes

New York Approved

Yes

ABN Required

Yes

Customize

Slice - Xpanded (>150 genes, Proband or Trio)

Forms and Documents

Test Requisition Form Test Info Sheet Family Member Test Requisition

Test Details

Clinical Utility:

For large custom gene lists of 150 or more genes as proband-only or trio analysis
Identification of underlying molecular cause of clinical diagnosis
Recurrence risk assessment

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

J757

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies by Genes

New York Approved

Yes

ABN Required

Yes

Customize

Slice - Xpanded Xpress - Slice Xpanded with a Verbal Result in 7 Days

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Analysis limited to a pre-approved list of one or more genes submitted by provider via “Customize” button above.
Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TG71

Turnaround Time *:

Verbal result in 7 days, final report ~2 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies by Genes

New York Approved

Yes

ABN Required

Customize

Slice - Xpanded Priority - Slice Xpanded with Written Results in 3-4 Weeks)

Forms and Documents

Test Info Sheet Test Requisition Family Member Test Requisition

Test Details

Clinical Utility:

Analysis limited to a pre-approved list of one or more genes submitted by provider via “Customize” button above.
Determination of a clinical diagnosis
Identification of gene implicated in genetic disease
Recurrence risk assessment

Notes:

Insurance billing not accepted

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

TG75

Turnaround Time *:

3-4 weeks

Preferred Specimen:

3-6 mL Blood Only - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies by Genes

New York Approved

Yes

ABN Required

Slice - Congenital Ichthyosis

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

Genes:

Expand Genes

ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSL (ARSE), CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2, GJB3, GJB4, GJB6, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PNPLA1, POMP, PSAT1, SDR9C7, SERPINB8, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24

Disorders:

Clinical Utility:

Identification of the specific molecular basis of congential ichthyosis or related skin disorders
Genetic counseling and recurrence risk assessment
Preparation for prenatal testing in future pregnancies

Notes:

As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.

Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

708

Turnaround Time *:

6 weeks (4 weeks for newborns <1 month)

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81252x1, 81401x1, 81479x1

New York Approved

Yes

ABN Required

Yes

Slice - Epidermolysis Bullosa (EB)

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

Genes:

Expand Genes

CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5, FERMT1, FLG2, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5

Disorders:

Clinical Utility:

Identification of the specific molecular basis of a hereditary blistering disorder
Genetic counseling and recurrence risk assessment
Preparation for prenatal testing in future pregnancies

Notes:

If an affected individual is found by XomeDxSlice-EB to have only a single mutation in a gene with recessive inheritance, deletion/duplication analysis of that gene can be performed at no additional cost.

Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

707

Turnaround Time *:

6 weeks (4 weeks for newborns <1 month)

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81406x2, 81479x1

New York Approved

Yes

ABN Required

Yes

References

Varki et al., 2006 J Med Genet 43:641-52
Varki et al., 2007 J Med Genet. 44:181-92
Schumann et al., 2013 Br J Dermatol. Mar 18
Charlesworth et al., 2013 Br J Dermatol. 168:808-814
Yang et al., 2012 PediatrDermatol. 29:725-31
Has et al., 2012 N Engl J Med. 366:1508-14
Liu et al., 2012 J Invest Dermatol. 132:742-4
Smith 2012 Br J Dermatol. 166:894-6
Has et al., 2011 Hum Mutat. 32:1204-12
Murase et al., 2011Acta DermVenereol. 91:730-1
Uitto J. 2011 ActaDermVenereol. 91:259-61
Almaani et al., 2011 ActaDermVenereol. 91:262-6
Kiritsi et al., 2011 J Med Genet. 48:450-7
Techanukul et al., 2011 ActaDermVenereol. 91:267-70
Pigors et al., 2011 Hum Mol Genet. 20:1811-9
Natsuga et al., 2010 Hum Mutat. 31:1687-98
Hobbs et al., 2010 J Invest Dermatol. 130:2680-3
Fine et al., 2008 J Am AcadDermatol. 58:931-50
Intong et al., 2012 ClinDermatol. 30:70-7
Sprecher E. 2010 DermatolClin. 2028:23-32
Rezniczek et al., 2010 DermatolClin. 28:33-41, A series of review articles in DermatolClin. 2010 Jan;28
Dang et al., 2008 ExpDermatol. 17:553-68
Pfendner EG, Lucky AW Junctional Epidermolysis Bullosa. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews
Seattle (WA): University of Washington, Seattle; 1993-2008, Pfendner EG, Lucky AW: Dystrophic Epidermolysis Bullosa (November 2010) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Copyright, University of Washington,
Pfendner EG & Lucky AW: Epidermolysis Bullosa with Pyloric Atresia (February 2013) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.gene

Slice -- Homozygous (no gene list)

Forms and Documents

Test Info Sheet Test Requisition Form Medical Necessity Template

Test Details

Clinical Utility:

For analysis of homozygous variants in individuals with previously identified regions of homozygosity by array, and/or known consanguinity
Identification of underlying molecular cause of clinical diagnosis
Recurrence risk assessment

Notes:

When submitted concurrently, parental samples may be included for targeted variant testing via capillary sequencing or other appropriate method.
Submission of a custom gene list is not needed, but relevant clinical records are required to aid in analysis and reporting of variants.
To order by printed requisition form, please mark test code 706 and write in 706H - Homozygous Slice as the Slice ID (page 5)

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706H

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Albinism

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

♦ Suggested gene lists, tailored to a specific test indication, are reviewed and updated periodically by GeneDx. Certain genes associated with the phenotype may not be included. Ordering providers are encouraged to review the gene list and revise it by adding or subtracting desired genes. Ultimately, the provider is responsible for selecting the appropriate genes based on the patient's phenotype.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Albinism

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Aplastic Anemia

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-AA

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Autoimmune Disorders

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-AutoImmune

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Bardet-Biedl Syndrome

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-BBS

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Bone Marrow Failure Syndromes

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-BMF

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Coloboma

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Coloboma

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Common Variable Immune Deficiency

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-CVID

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Congenital Kidney and Urinary Tract (CKUT) Anomalies

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-CKUT

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Disorders of Sex Development

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-DSD

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Ectodermal Dysplasia

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-ED

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Fanconi Anemia

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-FA

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Glycogen Storage Disorders

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-GSD

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Hemolytic Anemia

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Anemia

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Heterotaxy

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Heterotaxy

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Hyperinsulinism

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Hyperinsuli

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Hypoglycemia

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Hypoglycemi

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Inflammatory Bowel Disease

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-IBD

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Lymphedema

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Lymph

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Muscular dystropy-dystroglycanopathy (Walker-Warburg)

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-WWS

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Obesity

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Obesity

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Palmoplantar keratoderma plus congenital ichthyosis

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-PPK/CI

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Primary Immunodeficiency

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Primary Imm

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Pulmonary Fibrosis

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Pulmonary F

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Rhabdomyolysis

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Rhabdo

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Short-Rib Thoracic Dysplasia

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-SRTD

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - Thrombocytopenia

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-Thrombocyto

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Customize

Suggested Custom Slice - VACTERL Association

Forms and Documents

Test Requisition Form Test Info Sheet Medical Necessity Template

Test Details

Clinical Utility:

Proband-only analysis of custom gene list (up to 150 genes)

Notes:

♦ Click Customize to view the suggested gene list, then scroll to the top of the page for instructions to create the gene list and order XomeDxSlice.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

706 + CS-VACTERL

Turnaround Time *:

8 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

CPT codes depend on final gene list and are available upon request.

New York Approved

Yes

ABN Required

Yes

Special Services

Service Available

Description

More Information

Carrier/Mutation-specific testing

GeneDx can provide Mutation-Specific Testing for known familial mutations, in any gene, for families that have had previous XomeDx^® or XomeDx^®Plus testing at GeneDx. Mutation-Specific Testing is offered for both symptomatic and asymptomatic individuals, and for dominant, recessive, or maternally inherited mutations. Mutation-Specific Testing is less costly and more rapid than diagnostic analysis of the whole gene. Pricing is dependent on whether testing is done for one or two mutations. For XomeDx mutation specific testing, please click here to fill out the XomeDx form.

Test Requisition

Release of Exome Aligned Sequence Data

GeneDx is able to release exome sequence (ES) data for individuals who have undergone XomeDx^®, XomeDx^®Plus, XomeDxXpress^®, XomeDx^®Prenatal, and XomeDx^®Insights testing. Data is available as CRAM (compressed BAM file) or VCF files with the signed consent of the patient and applicable family members. GeneDx does not provide interpretation or confirmation by an orthogonal test method for variants unrelated to the patient’s clinical features as reported to GeneDx at the time of testing. Variants not included in the GeneDx test report should be considered research results and should not be used for medical management without appropriate confirmation and interpretation by a qualified genetics provider. As of October 1, 2018, requested data will be delivered via email through secure, HIPAA compliant file sharing.

XomeDx^® Data Release FAQs

Consent for Exome Data Research Use

Consent Release of Exome Data for Clinical/Personal Use

FAQ

What is exome sequencing and when is it useful?

Exome sequencing targets the protein-coding regions, called exons, of the approximately 20,000 genes in the genome. It is a powerful diagnostic tool, providing a definitive diagnosis in 20-50% of patients (Yang, et al. N Engl J Med. 2013 Oct 17;369(16):1502-11, and GeneDx, Retterer et al., Genet Med. 2015 Dec 3). Exome sequencing can be used to identify the molecular basis of a genetic disorder in individuals:

With a genetically heterogeneous disease as pathogenic findings could be present in many different genes

With a long list of differential diagnoses

With an atypical presentation of a genetic disorder

Who have exhausted other currently available genetic testing options

Who have suspected tissue-specific mosaicism

What does GeneDx need to perform XomeDx^® testing?

Proband’s specimen. Please visit the Specimen Requirement Page for more information.

Family member samples, if appropriate depending on Xome test requested.

Completed XomeDx^® Test Requisition Form and signed Informed Consent Form.

Medical records, including prior test results, consult notes, and pedigree/family history. Client is encouraged to provide specific genes/disorders of interest and differential diagnosis.

What is the cost of XomeDx^®?

Questions regarding pricing and billing can be directed to GeneDx Customer Service at zebras@genedx.com or by calling 1-888-729-1206.

How long will it take to receive XomeDx^® results?

The turnaround time will vary depending on the specific Xome test requested. Please see the specific test page for additional information.

Whose specimens should be sent for XomeDx^® and what testing is performed?

When a trio (proband plus both parents) is sent for XomeDx^® and XomeDx^®Plus, exome sequencing is always performed on each member of the trio. This improves the sensitivity of the analysis when compared to testing only the proband. In some cases, including siblings or other relatives of the proband can be helpful. GeneDx will decide, in consultation with the ordering provider, which individuals will optimize our ability to identify a genetic cause of the patient’s features. We will also discuss the type of testing that is most useful and appropriate (i.e. exome sequencing or targeted variant testing to determine segregation). All individuals’ samples should be submitted at the beginning of testing. Relative samples may be collected and shipped separately from the proband sample; however, relative specimens must be received within three weeks of receipt of the proband's sample. In general, only a single report will be issued for the proband. However, the report will describe the inheritance and segregation of variants for all tested individuals.

Although exome sequence data may be generated on relatives, this data is only used to aid in the analysis of the proband's data. GeneDx does not conduct an independent analysis on relative samples. A second, independent analysis on a relative can be ordered, additional fees apply.

Can I send a different relative if a parent is unavailable?

Biological parents are typically the most informative samples and are accepted whenever possible. If parents are unavailable, other relatives may be considered on a case by case basis. To review details of a specific case, you can contact a GeneDx Clinical Genomics Genetic Counselor at zebras@genedx.com or 1-888-729-1206.

Is exome sequencing via a trio better than a proband alone?

The positive rate is highest when a trio is submitted/analyzed, as the inclusion of parental data improves the ability to classify variants. The absence of parental data may lead to over reporting of variants of unknown significance that could otherwise be dismissed based on inheritance patterns.

Can you use XomeDx^® to screen the parents for carrier status of recessive diseases?

Carrier testing for autosomal recessive conditions is best performed via other tests, such as ReproXpanded and/or GenPath: Inherigen.

How does GeneDx identify variants associated with the patient’s phenotype?

Exome sequencing will identify hundreds of thousands of variants. Variants are filtered using a variety of factors including population frequency, presence of gene and/or variant in HGMD or other databases, inheritance pattern, phenotype, severity of sequence change, and function in pathways. The clinical information provided by the ordering provider, including a description of the features, family history, and prior test results, is critical in the analysis of variants.

What will the test report include?

A single XomeDx^® report will be issued on the proband/main affected individual in the family. A separate report will not be issued for family members who may also have submitted a specimen for the purpose of allowing better interpretation of the results from the affected individual. If additional reports are requested for other affected family members, additional fees will apply. The XomeDx^® report issued for the affected individual will contain variations in genes previously implicated in a human disease similar to the affected individual or in genes hypothesized to be related to the cause of the disease (candidate genes), based upon the function, tissue of expression, and phenotype of model organisms with alterations in the gene. Variants in candidate genes may also be reported based on internal data, such as observations of previous XomeDx^® cases with similar phenotypes and types of variations in the same gene.

What are ACMG Secondary Findings?

The American College of Medical Genetics and Genomics (ACMG) recommends that pathogenic and likely pathogenic variants identified in a specific subset of genes associated with medically actionable, inherited disorders be reported for all probands undergoing exome or genome sequencing.

Please refer to the latest version of the ACMG recommendations for reporting of secondary findings in clinical exome and genome sequencing for complete details of the genes and associated genetic disorders. Secondary findings will be included in all exome and genome sequencing reports, unless a proband opts-out of receiving this information in the Informed Consent section of the test requisition form. The presence of any secondary finding(s) reported for the affected individual will be provided for all relatives included as part of the proband's test. GeneDx does not conduct an independent evaluation of secondary findings in relatives. Relatives have the ability to opt-out of receiving secondary findings. Secondary findings will be confirmed by an alternate test method when needed.

Can I request a separate report for family members that includes ACMG secondary findings not present in the proband?

Yes, as a separate test. An independent analysis for ACMG secondary findings can be ordered via XomeDxSlice, test code 706. ACMG secondary findings are also reported as part of XomeDx^®Insights, an exome based test designed for generally healthy adults who would like to learn about medically relevant changes in their genetic code, and their risk to have or develop certain genetic conditions.

Are there any findings that will NOT be reported?

A single report will be issued on the main affected individual in the family, referred to as the proband. No separate reports will be issued for the parents or other unaffected relatives. Variants known to be benign (not associated with any disease) and/or commonly seen in many other healthy people will not be reported. If a patient opts-out of receiving secondary findings, we will not analyze or report variants in the ACMG-recommended genes unless they are related to the patient’s phenotype. Only variants associated with the proband's reported clinical features will be reported and/or ACMG secondary findings if the family opted-in.

Will the analysis identify variants in disease-associated genes that are not associated with the patient’s reported phenotype?

Given the large number of genes analyzed via exome sequencing, pathogenic variants may be detected in genes that may be medically significant, but not associated with the primary reason for testing in a given patient.

In rare cases, GeneDx may report an incidental finding in a gene that is not one of the genes recommended by the ACMG. These reported findings must be pathogenic variants identified in the coding exons of genes, considered medically actionable, with the results expected to have a significant impact on the patient's health. These findings are not reported without prior discussion with the ordering clinician.

Are there genes that are not well covered by this method?

It is possible that entire genes may not be able to captured and sequenced in a particular patient, though in general we expect that there are only small portions of different genes not amenable to evaluation. Some exons have low or no coverage because no probes have been designed or are unavailable for these regions. It may be challenging to obtain usable sequence data for some regions. To check coverage of specific genes via exome sequencing, visit the XomeDx^®Slice Tool.

What sequencing platform and capture kit is GeneDx using?

GeneDx uses an Illumina sequencing platform and IDT xGen v1.0 capture.

What is the methodology?

Genomic DNA from the submitted specimen is enriched for the complete coding regions and splice site junctions for most genes of the human genome using a proprietary capture system developed by GeneDx for next-generation sequencing with CNV calling (NGS-CNV). The enriched targets are simultaneously sequenced with paired-end reads on an Illumina platform. Bi-directional sequence reads are assembled and aligned to reference sequences based on NCBI RefSeq transcripts and human genome build GRCh37/UCSC hg19. Using a custom developed analysis tool (XomeAnalyzer), data are filtered and analyzed to identify sequence variants and most deletions and duplications involving three or more coding exons (Retterer et al., 2015). Smaller deletions or duplications may not be reliably identified. Reported clinically significant variants are confirmed by an appropriate orthogonal method in the proband and, if submitted, in selected relatives as necessary. Reportable variants include pathogenic variants, likely pathogenic variants and variants of uncertain significance. Likely benign and benign variants, if present, are not routinely reported.

Can I get the capture target .bed file?

GeneDx exome sequencing uses IDT xGen v1.0 and the bed file for the probe and target locations are available directly from IDT: https://www.idtdna.com/pages/products/next-generation-sequencing/hybridization-capture/lockdown-panels/xgen-exome-research-panel (near the bottom of the page under Resources).

What are the statistics for coverage/quality?

Approximately 98% of the targeted region of an affected individual's exome will be assessed with the XomeDx test at a minimum of 10x coverage, the minimum read depth necessary to detect a variant. Across the exome, the average depth of coverage is 100-120x. The test report will include case-specific exome coverage. Average read depth statistics for the XomeDx test are as follows:

Read Depth 10x 20x 30x 40x 50x

Mean Percent of Target Covered 98% 97% 94% 90% 83%

Does exome sequencing detect copy number variants (i.e. deletions, duplications)?

Since 2014, GeneDx has been detecting copy number variants (CNVs) directly from exome sequencing data using an in-house developed algorithm (Retterer et al., 2015, PMID 25356966). This method can reliably detect most deletions and duplications involving three or more coding exons; smaller deletions or duplications may not be reliably identified. All reported CNVs are confirmed by an orthogonal method such as array CGH, MLPA, or PCR and parental confirmations for reportable CNVs are reported without additional charges. CNV analysis may not be possible in approximately 5% of samples. All Xome-based reports will include whether CNV detection was possible. At this time, exome based technology is not a replacement for the sensitivity of exon level aCGH.

Our CNV analysis via XomeDx^® can identify:

Large multi-gene chromosomal aberrations

Small, partial gene, and intragenic CNVs; deletions and duplications of three exons or larger are reliably identified

CNVs of one to two exons in size may be identified and comprise >50% of our previously reported exon-level variants

Chromosomal aneuploidy

Uniparental disomy, including isodisomy and heterodisomy

Inheritance of CNVs when a trio is submitted

CNV analysis is limited or may not be possible in regions with reduced coverage, extreme GC- or AT-content, or significant homology to pseudogenes or segmental duplications. Our method may not always detect: balanced aberrations, mosaicism, deletions/duplications involving only part of an exon, or CNVs in non-coding regions of the genome.

My patient's test report was negative but I know a genetic condition is present in the family. What additional testing can be requested?

A negative report means we did not detect any variants related to the reported clinical features in any area of the exome that was tested at the time of the analysis. It certainly is possible that the cause of the affected individual’s disease is due to an underlying genetic condition. There could be a variant in a region of the exome that is not covered by this test, a type of variant that cannot be detected by the exome test, or there may be a variant that is observed in a gene not yet known to cause human disease. Depending on the specific situation and condition of interest in a given family, additional genetic testing may be warranted.

Reanalysis of the previously generated exome data can be considered, since technology and bioinformatics pipelines continuously improve and new disease genes are published.

What is reanalysis and when should I request this?

Reanalysis is the process of reexamining the sequencing data generated from the XomeDx^® test. This is most commonly requested when the initial exome sequencing did not yield a definitive result and may be especially helpful in cases where there are changes to the phenotype. Generally, reanalysis is recommended to occur at least one year after the date of the initial XomeDx^® report. Currently, we offer a one-time, no-charge reanalysis for every XomeDx^® or XomeDx^®Plus test.

What if extended family members want to be tested for a variant which was identified in a patient by XomeDx^® testing?

Family members can be tested for variants identified in the initial patient. If the variants detected in the proband are classified as pathogenic or likely pathogenic, family member testing can be ordered via Targeted Variant Testing (Site-Specific).

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of the VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP). GeneDx considers requests for the Clinical Genomics VTP for any individual found to have a VUS in a disease-causing gene through exome or genome sequencing at our laboratory. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Genetic testing for other variants or additional family members, including predictive testing, is not included in our VTP and can be ordered separately for charge. GeneDx will make the final determinations for VTP in its sole discretion.

Inquiries regarding the Clinical Genomics VTP can be directed to GeneDx Clinical Genomics genetic counselors via email zebras@genedx.com, phone 301-519-2100, or fax 301-519-2892, that includes a detailed pedigree and any relevant clinical information/evaluations. Please be sure to indicate that you are submitting the information for VTP consideration, and include the name and/or GeneDx accession number of the proband.

I still have questions regarding an XomeDx^® test. Who should I contact?

You can contact a Clinical Genomics Genetic Counselor through our Customer Service team:

Email: zebras@genedx.com

Phone: 1-888-729-1206 (301-519-2100)

Secondary Findings

GeneDx will report out pathogenic and likely pathogenic variants in the genes recommended by the American College of Medical Genetics and Genomics (ACMG). GeneDx is currently evaluating probands for ACMG SF v3.0 (Miller et al., 2021). The presence or absence of the proband's identified secondary findings is available for relatives who underwent whole exome/genome sequencing or targeted segregation analysis as part of the proband's test. ACMG secondary findings are not reported for relatives that opted out of receiving ACMG secondary findings. Variants that may be present in a relative, but are not present in the proband, would not be detected and therefore are not reported. Only pathogenic and likely pathogenic variants associated with specific genotypes, as recommended by the ACMG are reported (Miller et al., 2021; Richards et al., 2015). Pathogenic and/or likely pathogenic variants may be present in a portion of the gene not covered by this test and therefore would not be detected. The absence of reportable secondary findings for any particular gene does not mean there are no pathogenic and/or likely variants in that gene, or other variants that may confer susceptibility to the disorders listed.

A current list of genes and disorders for which findings may be reported can be found here.

Clinical Genomics (Exome and Genome Sequencing) Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of the VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP).

How do I determine if a variant is eligible for the Clinical Genomics VTP?

GeneDx considers requests for the Clinical Genomics VTP for any individual found to have a VUS in a disease-causing gene through exome- or genome-based sequencing at our laboratory. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Genetic testing for other variants or additional family members, including predictive testing, is not included in our VTP and can be ordered separately for charge. GeneDx will make the final determinations for VTP in its sole discretion.

Application process for the Clinical Genomics VTP:

Please fax a detailed pedigree and any relevant clinical information/evaluations to the GeneDx Clinical Genomics genetic counselors at 301-519-2892, email zebras@genedx.com, or call 301-519-2100 and ask to speak with a Clinical Genomics genetic counselor. Please be sure to indicate that you are submitting the information for VTP consideration, and include the name and/or GeneDx accession number of the proband.

Our team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within a few days, but please allow up to 3 weeks after receipt of the application for a reply.

A member of our team will contact the ordering clinician after the case has been reviewed to let him/her know if the family has been accepted in the VTP. If we are extending an offer for family member variant testing at no additional charge, we will discuss logistics of sample submission at that time.

Reasons why a family might not be accepted into the Clinical Genomics VTP:

The VUS is in a gene for which there is no currently described phenotype (i.e. candidate or novel gene).
There are no informative family members available for testing.
In certain circumstances, it may be more informative to perform more comprehensive diagnostic genetic testing in affected family member(s) instead of targeted testing of one or more unaffected relatives for a VUS.
Segregation studies involving genes with incomplete penetrance or variable age-of-onset are challenging, especially in unaffected individuals; therefore, VTP studies are less likely to be approved for such genes.
Segregation studies involving genes that may cause either an autosomal dominant or an autosomal recessive disorder are also more challenging than studies involving highly penetrant autosomal dominant genes; therefore, VTP studies are less likely to be approved for such genes.
Variant studies for the evaluation of a single VUS in a gene associated with an autosomal recessive disorder are rarely informative. Therefore, these requests are typically denied.

Revising the classification of variants of uncertain significance takes a great deal of data and information from multiple sources. Therefore, there is no guarantee that participation in the VTP will lead to an updated classification of a VUS based on information from a single family, although cumulative data collected from multiple families over time may lead to a more definitive classification for a variant.

For more information please contact:
The GeneDx Clinical Genomics genetic counselors at 301-519-2100

iHope Whole Genome Sequencing Program

GeneDx is a member of the iHope Network, a philanthropic program which provides clinical whole genome sequencing (WGS) services at no cost to patients whose clinical features are believed to be genetic in origin and who do not have the financial means to pay for this testing. GeneDx is currently accepting applications for any patient who fits these criteria. Applications will be reviewed to determine if the patient along with unaffected parents (or other appropriate relatives) may be eligible for no-charge WGS at GeneDx as part of our iHope Network collaboration (https://www.illumina.com/company/ihope.html).

iHope Application Process

Clinician identifies patient who could benefit from WGS and cannot otherwise afford this testing. Ideally, blood samples will be available from proband, biological mother, and biological father. Other informative relatives may be submitted for targeted segregation analysis.
Clinician completes the Application for iHope Whole Genome Sequencing and submits detailed clinical records for review by the GeneDx iHope Clinical Review Group.
GeneDx iHope Clinical Review Group meets monthly to review all submitted applications and determines which cases will be accepted for no-charge WGS.
GeneDx communicates to clinician whether the submitted case has been accepted for iHope WGS.

iHope Testing Process

If a case is accepted for iHope, GeneDx will provide a special iHope WGS test requisition form to be completed by the clinician.
Patient/family provides blood specimens and consents for testing.
A written report will be provided upon completion of testing (turnaround time approximately 16 weeks).
Optional follow-up with clinician and/or family to review results.

Questions can be sent to iHope@GeneDx.com.

Odyssey Exome Sequencing Program

GeneDx is committed to improving patient care and making genetic testing more accessible. We continue to diagnose well-described conditions and also identify brand-new genes that have never before been described to cause disease in humans. Through the GeneDx Odyssey Program, for every new disease-causing gene we publish this year, GeneDx will offer exome sequencing (ES) at no cost to a patient who meets clinical criteria and who cannot otherwise afford or have access to this testing. GeneDx is currently accepting applications for any patient who fits these criteria. Applications will be reviewed to determine if the patient along with unaffected parents (or other appropriate relatives) may be eligible for no-charge ES at GeneDx as part of our Odyssey Program.

ODYSSEY APPLICATION PROCESS

Clinician identifies patient who could benefit from ES and cannot otherwise afford or have access to this testing. Ideally, blood samples will be available from proband, biological mother, and biological father. Other informative relatives may be submitted for targeted segregation analysis.
Clinician completes the Application for Odyssey Exome Sequencing and submits detailed clinical records for review by the GeneDx Odyssey Clinical Review Group.
GeneDx Odyssey Clinical Review Group meets monthly to review all submitted applications and determines which cases will be accepted for no-charge ES.
GeneDx communicates to clinician whether the submitted case has been accepted for Odyssey ES.

ODYSSEY TESTING PROCESS

If a case is accepted for Odyssey testing, GeneDx will provide a special Odyssey XomeDx test requisition form to be completed by the clinician.
Patient/family provides blood specimens and consents for testing.
A written report will be provided upon completion of testing (turnaround time 8-12 weeks).
Optional follow-up with clinician to review results.

Questions can be sent to Odyssey@GeneDx.com.

Read Depth	10x	20x	30x	40x	50x
Mean Percent of Target Covered	98%	97%	94%	90%	83%