Targeted Mosaic Variant Testing
Test Overview
Clinical Utility
- Testing parent(s) to clarify future reproductive risks when a variant was identified in a child
- Testing a parent who is suspected to be mosaic due to a mild clinical presentation or the presence of only certain tissue-specific features of the disorder
- Testing additional tissue samples to evaluate for the possibility of tissue-specific mosaicism in a proband
- CLIA confirmation of suspected mosaic findings identified by a research study
Test Details
Genes
A2ML1, AAAS, AAGAB, AARS, AARS2, AASS, ABCA1, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCB6, ABCB7, ABCC2, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACBD5, ACD, ACE, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN1, ACTN2, ACTN4, ACVR1, ACVR1C, ACVR2B, ACVRL1, ADA, ADA2, ADAM10, ADAM17, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS2, ADAMTS9, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADCK3, ADCK4, ADCY1, ADCY10, ADCY5, ADCY6, ADGRG1, ADGRV1 (GPR98), ADNP, ADRB2, ADRB3, ADSL, AEBP1, AFG3L2, AGA, AGK, AGL, AGPAT2, AGPS, AGRN, AGRP, AGT, AGTR1, AGXT, AHDC1, AHI1, AICDA, AIFM1, AIMP1, AIP, AIPL1, AIRE, AK1, AK2, AKAP9, AKR1C2, AKR1D1, AKR1E2, AKT1, AKT2, AKT3, ALAD, ALAS2, ALDH18A1, ALDH1A2, ALDH1A3, ALDH3A2, ALDH5A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALK, ALMS1, ALOX12, ALOX12B, ALOXE3, ALPK3, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMELX, AMER1, AMH, AMHR2, AMN, AMPD1, AMPD2, AMT, ANG, ANK1, ANK2, ANKH, ANKLE2, ANKRD1, ANKRD11, ANKRD26, ANKS6, ANLN, ANO10, ANO3, ANO5, ANO6, ANO7, ANTXR2, AP1S1, AP1S2, AP2S1, AP3B1, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APCDD1, APEX1, APLN, APOA5, APOB, APOE, APOL1, APOPT1, APPL1, APRT, APTX, AQP2, AQP5, AR, ARFGEF2, ARG1, ARHGAP24, ARHGAP31, ARHGDIA, ARHGEF28, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARL6IP1, ARMC4, ARSA, ARSB, ARSL (ARSE), ARX, ASAH1, ASB10 (GLC1F), ASCL1, ASL, ASNS, ASPA, ASPH, ASPM, ASS1, ASXL1, ASXL3, ATG2B, ATL1, ATL3, ATM, ATOH7, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B2, ATP2C1, ATP5A1, ATP5E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V0D2, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRIP, ATRX, ATXN10, AUH, AURKC, AUTS2, AVP, AVPR2, AXIN2, AXL, B3GALNT2, B3GALT6, B3GALTL, B3GAT3, B3GNT8, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BAG3, BANF1, BAP1, BARD1, BBS1, BBS10, BBS12, BBS2, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCMO1, BCOR, BCS1L, BDNF, BDP1, BEST1, BFSP1, BFSP2, BGN, BHLHA9, BICC1, BICD2, BIN1, BLK, BLM, BLNK, BLOC1S3, BLOC1S6, BMP1, BMP15, BMP2, BMP4, BMP7, BMPER, BMPR1A, BMPR1B, BMPR2, BOLA3, BRAF, BRAT1, BRCA1, BRCA2, BRIP1, BRK1, BRWD3, BSCL2, BSND, BTAF1, BTD, BTK, BUB1B, BVES, C10orf2, C12orf57, C12orf65, C150rf41, C19orf12, C1QA, C1QB, C1QC, C1S, C20orf7, C21orf59, C2CD3, C3, C4BPA, C4BPB, C4orf26, C5orf42, C8orf38, CA12, CA2, CA5A, CA8, CABIN1, CABP2, CABP4, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNB2, CALCR, CALM1, CALM2, CALM3, CALR, CALR3, CAPN12, CAPN3, CAPN6, CARD14, CARD15, CARS2, CARTPT, CASC5, CASK, CASP10, CASP14, CASP8, CASQ2, CASR, CAST, CATSPER1, CATSPER2, CAV1, CAV3, CAVIN4, CBFB, CBL, CBLN2, CBS, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC115, CCDC141, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC50, CCDC65, CCDC78, CCDC8, CCM2, CCND2, CCNO, CCT5, CD151, CD164, CD19, CD247, CD27, CD2AP, CD320, CD33, CD36, CD3D, CD3E, CD40, CD40LG, CD46, CD79A, CD79B, CD81, CD86, CDAN1, CDC14A, CDC45, CDC5L, CDC6, CDC73, CDH1, CDH13, CDH23, CDH3, CDH7, CDK13, CDK4, CDK5RAP2, CDK6, CDKL5, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDON, CDSN, CDT1, CEACAM16, CEBPA, CEL, CEMIP, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CEP83, CERS3, CFB, CFC1, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFL2, CFTR, CHAT, CHCHD10, CHCHD2, CHD1L, CHD2, CHD7, CHD8, CHEK2, CHKB, CHM, CHMP1A, CHMP2B, CHMP4B, CHRM2, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST6, CHST8, CHSY1, CHUK, CIB2, CIDEC, CISD2, CIT, CITED2, CIZ1, CKAP2L, CLCN1, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN14, CLDN16, CLDN19, CLIC2, CLIC5, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNNM2, CNTN1, CNTN4, CNTNAP1, CNTNAP2, COA5, COA6, COASY, COCH, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL14A1, COL17A1, COL19A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLQ, COMP, COQ2, COQ4, COQ6, COQ7, COQ9, CORO1A, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CP, CPA1, CPOX, CPS1, CPT1A, CPT2, CR2, CRADD, CRB2, CREB3L1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGB, CRYGC, CRYGD, CRYGS, CRYM, CSF2RA, CSF2RB, CSF3R, CSGALNACT1, CSNK2A1, CSNK2A2, CSPP1, CSRP3, CSTA, CSTB, CTC1, CTCF, CTDP1, CTF1, CTLA4, CTNNA1, CTNNA3, CTNNB1, CTNND2, CTNS, CTR9, CTRC, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CUL3, CUL4B, CUL7, CXCL12, CXCR2, CXCR4, CYB5R3, CYBA, CYBB, CYC1, CYCS, CYLD, CYP11A1, CYP17A1, CYP19A1, CYP1B1, CYP24A1, CYP26B1, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP4F22, CYP51A1, CYP7A1, CYP7B1, CYR61, DAD1, DAG1, DAO, DARS2, DBT, DCAF17, DCDC2, DCHS1, DCLRE1B, DCLRE1C, DCTN1, DCX, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX25, DDX3X, DDX41, DEPDC5, DES, DFNA5, DFNB31, DFNB59, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHH, DHODH, DIABLO, DIAPH1, DIAPH3, DICER1, DIS3L2, DISP1, DKC1, DLAT, DLD, DLG3, DLL1, DLL3, DLL4, DLX3, DLX5, DMD, DMP1, DMRT1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAJB2, DNAJB6, DNAJC12, DNAJC13, DNAJC19, DNAJC5, DNAJC6, DNAL1, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPP6, DPYD, DRC1, DRD2, DRD5, DSC2, DSC3, DSE, DSG1, DSG2, DSG3, DSG4, DSP, DSPP, DST, DSTYK, DTNA, DTNBP1, DUOX2, DUOXA2, DUSP6, DVL1, DVL3, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYSF, DYX1C1, EARS2, EBP, ECEL1, ECHS1, ECM1, EDA, EDAR, EDARADD, EDN3, EDNRB, EEF1A2, EEF2, EFEMP1, EFEMP2, EFHC1, EFNB1, EFTUD2, EGF, EGFR, EGLN1, EGLN2, EGR2, EHHADH, EHMT1, EIF2AK3, EIF2AK4, EIF2B5, EIF4G1, ELAC2, ELANE, ELMOD2, ELMOD3, ELN, ELOVL4, ELOVL5, EMD, EMP2, ENAM, ENG, ENO3, ENPP1, ENTPD1, EOGT, EP300, EPAS1, EPB41, EPB42, EPCAM, EPG5, EPHA2, EPHX1, EPM2A, EPOR, EPS8, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN1, ERLIN2, ERMARD, ESCO2, ESPN, ESR1, ESR2, ESRRB, ETFA, ETFB, ETFDH, ETHE1, ETV4, ETV5, ETV6, EVC, EVC2, EWSR1, EXO5, EXOC8, EXOSC3, EXPH5, EXT1, EXT2, EYA1, EYA4, EZH2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FA2H, FABP2, FAH, FAM111A, FAM120A, FAM126A, FAM175A, FAM189A2, FAM20A, FAM20C, FAM58A, FAM65B, FAM83H, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FAS, FASLG, FASTKD2, FAT1, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBXL4, FBXO38, FBXO7, FDX1L, FECH, FERMT1, FERMT3, FEZF1, FGA, FGB, FGD1, FGD4, FGF10, FGF12, FGF14, FGF16, FGF17, FGF20, FGF23, FGF3, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGG, FH, FHL1, FHL2, FHOD3, FIG4, FIGLA, FITM2, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLCN, FLG, FLI1, FLNA, FLNB, FLNC, FLRT3, FLT3, FLT4, FLVCR2, FMR1, FN1, FOLR1, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXH1, FOXI1, FOXN1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM2, FRRS1L, FSHB, FSHR, FTH1, FTL, FTSJ1, FUCA1, FUS, FUT8, FXN, FXYD2, FYB, FYCO1, FZD2, FZD4, G6PC3, G6PD, GAA, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAD1, GAL3ST3, GALC, GALK1, GALNS, GALNT12, GALNT3, GALT, GAMT, GAN, GANAB, GARS, GAS1, GAS7, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD1, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCLC, GCM2, GCNT2, GDAP1, GDF1, GDF2, GDF3, GDF5, GDF6, GDF9, GDNF, GFAP, GFER, GFI1, GFI1B, GFM1, GFM2, GFPT1, GGCX, GH1, GHR, GHRHR, GHRL, GHSR, GIF, GIGYF2, GIPC3, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC1, GJC2, GK, GLA, GLB1, GLDC, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLRA1, GLRX5, GLUD1, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNA11, GNAL, GNAO1, GNAQ, GNAS, GNAT1, GNB4, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOSR2, GP1BA, GP1BB, GP6, GP9, GPC3, GPC4, GPC6, GPD1L, GPHN, GPI, GPR12, GPR56, GPR68, GPR98, GPSM2, GPX1, GPX4, GREM1, GRHL2, GRHL3, GRHPR, GRIA3, GRID2, GRIN1, GRIN2A, GRIN2B, GRM1, GRM6, GRN, GRXCR1, GRXCR2, GSC, GSKIP, GSR, GSS, GSTP1, GTF2E2, GTF2H5, GTPBP3, GUCY2C, GUCY2D, GUSB, GYG1, GYG2, GYPC, GYS1, HABP2, HADH, HADHA, HADHB, HAMP, HARS, HARS2, HAX1, HBA1, HBA2, HBB, HBD, HCCS, HCFC1, HCN1, HCN4, HDAC4, HDAC8, HEATR2, HEPACAM, HERC1, HES7, HESX1, HEXA, HEXB, HEY1, HFE, HFE2, HGF, HGSNAT, HINT1, HLCS, HMBS, HMGCL, HMGCS2, HMX1, HNF1A, HNF1B, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPD, HNRNPU, HOGA1, HOMER2, HOXA1, HOXA11, HOXA13, HOXA4, HOXB1, HOXB13, HOXB6, HOXD13, HPCA, HPD, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HS6ST1, HSBP1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSF4, HSPB1, HSPB3, HSPB8, HSPG2, HTRA2, HUWE1, HYAL1, HYAL2, HYLS1, IARS2, IBA57, ICOS, IDH1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNG, IFNGR2, IFT122, IFT172, IFT43, IFT74, IFT81, IGBP1, IGHMBP2, IGLL1, IGSF1, IHH, IKBKAP, IKBKB, IKBKG, IL11RA, IL17A, IL17F, IL17RD, IL1RAPL1, IL1RN, IL21, IL21R, IL2RG, IL7R, ILDR1, ILK, IMPAD1, INF2, INPP5E, INPPL1, INS, INSL3, INSR, INVS, IQCB1, IQSEC2, IRAK4, IRF4, IRF6, IRX4, IRX5, ISCA2, ISCU, ISPD, ITGA2, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA8, ITGB2, ITGB3, ITGB4, ITGB6, ITK, ITPR1, IVD, IYD, JAG1, JAGN1, JAK2, JAK3, JAM3, JPH2, JUP, KAL1, KANK1, KANK2, KANK4, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA5, KCNB1, KCNB2, KCNC1, KCNC3, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH1, KCNH2, KCNJ1, KCNJ10, KCNJ11, KCNJ16, KCNJ2, KCNJ5, KCNJ6, KCNJ8, KCNK3, KCNMA1, KCNN4, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0556, KIAA0586, KIAA1279, KIAA2022 (NEXMIF), KIF11, KIF14, KIF1A, KIF1B, KIF1C, KIF22, KIF23, KIF2A, KIF5A, KIF5C, KIF7, KISS1, KISS1R, KIT, KITLG, KL, KLF1, KLF10, KLF11, KLHL10, KLHL24, KLHL3, KLHL40, KLHL41, KLK4, KLKB1, KLLN, KMT2B, KMT2D, KRAS, KRIT1, KRT1, KRT10, KRT13, KRT14, KRT16, KRT17, KRT2, KRT25, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT85, KRT86, KRT9, KY, L1CAM, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE, LARP7, LARS, LARS2, LAS1L, LBR, LCK, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEFTY2, LEMD3, LEP, LEPR, LEPRE1, LEPREL1, LFNG, LGI1, LHB, LHCGR, LHFPL5, LHX3, LHX4, LIAS, LIFR, LIG4, LIM2, LIMS2, LINS, LIPA, LIPE, LIPH, LIPN, LIPT1, LITAF, LMAN1, LMBR1, LMBRD1, LMNA, LMNB2, LMOD3, LMX1B, LONP1, LOR, LOX, LPAR6, LPIN1, LPIN2, LPL, LPP, LRBA, LRP1, LRP2, LRP4, LRP5, LRP6, LRPPRC, LRRC10, LRRC4, LRRC6, LRRC8A, LRRK2, LRSAM1, LRTOMT, LSS, LTBP2, LTBP3, LTBP4, LUM, LYRM4, LYRM7, LYST, LZTR1, LZTS1, MAF, MAGED2, MAGEL2, MAGI2, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAP3K1, MAP3K3, MAP3K7, MAP3K8, MAP6, MAPT, MARS2, MARVELD2, MASP1, MASTL, MAT1A, MAT2A, MATN3, MATR3, MAX, MBD5, MBTPS2, MC1R, MC4R, MCCC1, MCCC2, MCEE, MCFD2, MCIDAS, MCM2, MCOLN1, MCPH1, MECP2, MECR, MED12, MED13L, MED17, MED25, MEF2C, MEFV, MEGF10, MEGF8, MEN1, MEOX1, MESP2, MET, MFAP5, MFF, MFN2, MFRP, MFSD2A, MFSD6L, MFSD8, MGAT2, MGME1, MGP, MIB1, MICU1, MID1, MIP, MIR184, MIR96, MITF, MKKS, MKS1, MLC1, MLH1, MLH3, MLL, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMP1, MMP13, MMP2, MMP20, MMP3, MMP9, MNX1, MOCOS, MOGS, MORC2, MPC1, MPDU1, MPI, MPL, MPLKIP, MPV17, MPZ, MRE11A, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MS4A1, MSH2, MSH3, MSH6, MSMO1, MSRB3, MSTN, MSX1, MSX2, MTAP, MTFMT, MTHFR, MTM1, MTMR1, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MUC5B, MUSK, MUT, MUTYH, MVK, MYBPC1, MYBPC3, MYCN, MYF6, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO15A, MYO18B, MYO1A, MYO1C, MYO1E, MYO1F, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYO9A, MYOC, MYOCD, MYOM1, MYOT, MYOZ2, MYPN, MYT1L, NAA10, NAA15, NAGA, NAGLU, NAGS, NALCN, NANOS1, NANS, NARS2, NBAS, NBEAL2, NBN, NCF1, NCF2, NCF4, NDE1, NDP, NDRG1, NDRG4, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEBL, NEDD4L, NEFH, NEFL, NEIL1, NEK1, NEK8, NEU1, NEUROD1, NEUROG3, NEXN, NF1, NF2, NFIA, NFIX, NFKB1, NFKBIA, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NID1, NIN, NIPA1, NIPA2, NIPAL4, NIPBL, NKX2-2, NKX2-5, NKX2-6, NKX3-2, NLGN4X, NLRP14, NLRP3, NME8, NOBOX, NODAL, NOG, NOP10, NOS1AP, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NPM1, NPPA, NPR2, NPRL3, NR0B1, NR1H4, NR2F1, NR2F2, NR3C2, NR5A1, NRAS, NRXN1, NRXN2, NSD1, NSDHL, NSMF, NSUN2, NT5C2, NT5C3A, NTF4, NTHL1, NTNG1, NTRK1, NTRK2, NTRK3, NUBPL, NUP107, NUP205, NUP93, NUS1, NXF5, NYX, OAT, OBSL1, OCA2, OCLN, OCRL, OFD1, OLFM2, OPA1, OPA3, OPHN1, OPTC, OPTN, ORAI1, ORC1, ORC4, ORC6, OSBPL2, OSR1, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTX2, OXCT1, P2RX1, P2RX2, P2RY12, P4HB, PABPN1, PACS1, PAF1, PAFAH1B1, PAH, PAK3, PALB2, PALLD, PAM16, PANK2, PANX1, PAPSS2, PARK2, PARK7, PARN, PARS2, PAX2, PAX3, PAX4, PAX5, PAX6, PAX8, PAX9, PBRM1, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH19, PCNT, PCSK1, PCSK9, PDCD1, PDCD10, PDE3A, PDE4D, PDE6B, PDGFB, PDGFRA, PDGFRB, PDHA1, PDHB, PDHX, PDIA3, PDK3, PDLIM3, PDP1, PDSS1, PDSS2, PDX1, PDYN, PDZD7, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAM5, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHC1, PHEX, PHF6, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHOX2B, PHYH, PI4KA, PICALM, PIEZO1, PIEZO2, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIGY, PIH1D3, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PINK1, PIP5K1C, PITX2, PITX3, PKD1, PKD1L1, PKD2, PKHD1, PKLR, PKP1, PKP2, PKP4, PLA2G6, PLAU, PLCB1, PLCD1, PLCE1, PLD1, PLEC, PLEKHG5, PLEKHM1, PLEKHM2, PLG, PLIN1, PLK4, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLS3, PMM2, PMP22, PMS2, PMVK, PNKD, PNKP, PNP, PNPLA1, PNPLA2, PNPLA6, PNPO, PNPT1, POC1A, POFUT1, POGLUT1, POGZ, POLD1, POLE, POLG, POLG2, POLH, POLR1C, POLR1D, POLR2M, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, PON1, PON2, PON3, POP1, POR, PORCN, POT1, POU1F1, POU3F4, POU4F3, PPA2, PPARG, PPARGC1B, PPIB, PPM1D, PPOX, PPP1CB, PPP1R3A, PPP2R5D, PPT1, PQBP1, PRDM12, PRDM16, PRDM5, PRDM9, PRF1, PRICKLE1, PRKACG, PRKAG2, PRKAR1A, PRKCG, PRKCSH, PRKDC, PRKG1, PRKRA, PRM1, PRM2, PRM3, PRNP, PROC, PRODH, PROK2, PROKR2, PROP1, PROS1, PRPH, PRPS1, PRRT2, PRSS1, PRSS2, PRSS56, PRX, PSAP, PSAT1, PSMB8, PSMC3IP, PSTPIP1, PTCH1, PTCH2, PTCHD1, PTDSS1, PTEN, PTF1A, PTH, PTH1R, PTHLH, PTPLA, PTPN11, PTPN14, PTPRC, PTPRO, PTPRQ, PTRF, PTS, PURA, PUS1, PVRL3, PXDN, PYCR1, PYGM, PYROXD1, PYY, QARS, QDPR, RAB18, RAB23, RAB27A, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAC2, RACGAP1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54B, RAF1, RAG1, RAG2, RAI1, RANGRF, RAP1A, RAP1B, RAPSN, RARS, RARS2, RASA1, RASA2, RASGRP2, RAX, RB1, RBBP8, RBM10, RBM20, RBM8A, RBMXL2, RBPJ, RDH12, RDH5, RDS, RDX, RECQL, RECQL4, REEP1, REEP2, RELN, REN, REST, RET, RETREG1, RFT1, RFX6, RGS6, RHAG, RHBDF2, RHO, RIN2, RIPK4, RIPPLY2, RIT1, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF135, RNLS, RNU4ATAC, ROBO2, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL11, RPL15, RPL21, RPL26, RPL27, RPL35A, RPL5, RPN2, RPS10, RPS15, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAGA, RRAS, RRM2B, RS1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPRY1, RTEL1, RTN2, RTTN, RUNX1, RUNX2, RXFP2, RYR1, RYR2, S1PR2, SACS, SAG, SALL1, SALL4, SAMHD1, SARS2, SASH1, SASS6, SATB2, SBDS, SBF1, SBF2, SC5D, SCARB2, SCARF2, SCG5-GREM1, SCG5 (GREM1), SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SDC3, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SEC23A, SEC23B, SEC24D, SEC61A1, SEC63, SEMA3A, SEMA3E, SEPN1, SEPSECS, SEPT12, SEPT9, SERAC1, SERPINA1, SERPINB6, SERPINB7, SERPINB8, SERPINC1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SETBP1, SETD2, SETD5, SETX, SF3B4, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH2B3, SH2D1A, SH3GL1, SH3PXD2B, SH3TC2, SHANK2, SHANK3, SHH, SHOX, SHROOM3, SIGMAR1, SIL1, SIM1, SIPA1L3, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC10A1, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC12A7, SLC13A5, SLC16A1, SLC16A12, SLC16A2, SLC17A5, SLC17A8, SLC19A2, SLC19A3, SLC1A1, SLC1A4, SLC20A2, SLC22A12, SLC22A5, SLC24A4, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A46, SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8, SLC27A4, SLC27A5, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A5, SLC2A9, SLC30A10, SLC33A1, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC38A8, SLC39A13, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC41A1, SLC41A3, SLC45A2, SLC46A1, SLC4A1, SLC4A3, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC7A9, SLC9A3R1, SLC9A6, SLCO1B1, SLCO1B3, SLCO2A1, SLCO5A1, SLFN14, SLITRK6, SLMAP, SLURP1, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMN1, SMO, SMOC2, SMPD1, SMPX, SMS, SNAI2, SNAP25, SNAP29, SNCA, SNRPN, SNTA1, SNX10, SNX14, SOD1, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX6, SOX9, SP7, SPAG1, SPARC, SPAST, SPATA16, SPATA5, SPG11, SPG20, SPG21, SPG7, SPINK1, SPINK5, SPINT2, SPR, SPRED1, SPRY1, SPRY4, SPTA1, SPTAN1, SPTB, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRA1, SRC, SRCAP, SRD5A2, SRD5A3, SRI, SRP72, SRPX2, SRY, SS18L1, SSR4, ST14, ST3GAL3, ST3GAL5, STAC3, STAMBP, STAR, STAT1, STAT3, STAT5B, STIL, STIM1, STK11, STRA6, STRC, STRN, STS, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUGCT, SULF1, SUMF1, SUMO1, SUOX, SURF1, SYCP3, SYNE1, SYNE2, SYNE4, SYNGAP1, SYNJ1, SYT14, SYT2, SZT2, TAB2, TAC3, TACO1, TACR3, TAF1, TAF15, TAL1, TALDO1, TANGO2, TAPT1, TARDBP, TARS2, TAT, TAZ, TBC1D20, TBC1D24, TBC1D4, TBC1D7, TBCE, TBK1, TBL1X, TBL1XR1, TBP, TBX1, TBX15, TBX18, TBX20, TBX3, TBX5, TBX6, TBXA2R, TBXAS1, TCAP, TCF12, TCF21, TCF4, TCF7L1, TCF7L2, TCIRG1, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TDGF1, TDP1, TDRD7, TECPR2, TECRL, TECTA, TEK, TEKT2, TENM1, TENM3, TERC, TERT, TET2, TFAM, TFAP2A, TFAP2B, TFG, TFR2, TFRC, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM1, TGM5, TGM6, TH, THAP1, THBD, THPO, THRA, THRB, TIA1, TIMM8A, TIMP3, TINF2, TITF1, TJP2, TK2, TLL1, TMC1, TMC2, TMC6, TMC8, TMCO1, TMEM107, TMEM126A, TMEM126B, TMEM127, TMEM132E, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM240, TMEM38B, TMEM43, TMEM5, TMEM67, TMEM70, TMIE, TMPO, TMPRSS3, TMPRSS5, TMPRSS6, TMX3, TNC, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF10, TNFSF11, TNFSF13, TNFSF13B, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TOR1A, TOR1AIP1, TP53, TP63, TPI1, TPK1, TPM1, TPM2, TPM3, TPO, TPP1, TPRN, TPSAB1, TRAF3IP1, TRAIP, TRAP1, TRAPPC11, TRAPPC2, TRAPPC9, TRDN, TREM2, TREX1, TRIM2, TRIM32, TRIM37, TRIM63, TRIO, TRIOBP, TRIP11, TRIP4, TRIT1, TRMT10C, TRMU, TRNT1, TRPC6, TRPM1, TRPM2, TRPM4, TRPM6, TRPM7, TRPS1, TRPV3, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPEAR, TTBK2, TTC19, TTC21B, TTC37, TTC7A, TTC8, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP5, TUBGCP6, TUFM, TUSC3, TWIST1, TXNRD2, TYK2, TYMP, TYR, TYROBP, UBA1, UBE2A, UBE2T, UBE3A, UBQLN2, UBR1, UCHL1, UCP1, UCP2, UCP3, UGT1A1, UGT1A7, UMOD, UMPS, UNC13D, UNC45B, UNG, UPF3B, UPK2, UPK3A, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROD, UROS, USB1, USH1C, USH1G, USH2A, USP26, USP9X, USP9Y, UTP14C, UTRN, VANGL1, VAPB, VARS2, VAX1, VCL, VCP, VDR, VEGFA, VEGFC, VHL, VIM, VIPAS39, VKORC1, VLDLR, VPS13A, VPS13B, VPS33A, VPS33B, VPS35, VPS37A, VPS45, VPS53, VRK1, VSX2, VWF, WAC, WAS, WDR11, WDR34, WDR35, WDR36, WDR45, WDR60, WDR62, WDR72, WDR73, WDR87, WFS1, WIPF1, WISP3, WNK1, WNK4, WNT1, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWOX, XDH, XIAP, XK, XKR4, XPA, XPC, XPNPEP2, XPNPEP3, XPO5, XPR1, XRCC2, XRCC4, XYLT1, YAP1, YARS, YARS2, ZAP70, ZBTB42, ZC4H2, ZEB2, ZFP57, ZFPM2, ZFYVE26, ZFYVE27, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND10, ZNF335, ZNF469, ZNF512B, ZNF592, ZNF687, ZNF711, ZNF750, ZNRF1, ZP1, ZSWIM6
Conditions
- Carrier/Variant-Specific Testing
- Carrier/Variant-Specific Testing - Nuclear Variants
Lab Method
- Next-Gen Sequencing
Ordering Information
Important Information
GeneDx offers targeted testing to evaluate for potentially low level mosaicism for a familial variant previously identified in an individual or in a relative. The Targeted Mosaic Variant Test could be considered in the following scenarios:
- When mosaicism is identified or suspected based on prior genetic test results (hereditary or somatic) (testing a different tissue type is recommended)
- Testing parent(s) to clarify future reproductive risks when a variant was identified in a child
- CLIA confirmation of suspected mosaic findings identified by a research study
Mosaic variant analysis is available for most genes on the GeneDx testing menu. In many cases, mosaic variant analysis is also available for individuals who had variants identified by testing at an outside laboratory or as part of a research study. At this time, mosaic variant analysis is not available for copy number variants (CNVs). Additionally, there are some genes or portions of genes are not amenable to mosaic variant analysis for sequencing variants. If prior trio testing was performed including the patient and both parents as part of exome or genome sequencing, an Xpanded panel, or another testing scenario, please contact GeneDx in advance of sample submission to discuss the utility of mosaic variant analysis. GeneDx can isolate DNA directly from skin punch biopsies or from cultured fibroblasts, which is indicated when blood/buccal/oral rinse are not appropriate specimen types due to a patient’s personal history of Bone Marrow Transplant (BMT) or certain hematologic conditions. For more information regarding Skin Punch Biopsy Collection, and to learn about Specimen Considerations for Individuals with Hematologic Diseases, please visit the Specimen Requirements Page.
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