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Logo-Dreamgenics

Dysmorphology

It is estimated that approximately 30–40% of physical abnormalities have a genetic cause, resulting from mutations or chromosomal abnormalities that affect development
Clinical areas
Skeletal dysmorphism
Craniofacial dysmorphology
Connective tissue disorders
Growth disorders
Documentation
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Skeletal Dysmorphology I: 4 Studies

Skeletal dysmorphology includes skeletal dysplasias, osteogenesis imperfecta, achondroplasia, and congenital limb anomalies—genetic conditions characterized by abnormalities in the development and homeostasis of bone and cartilage tissue. These may manifest as disproportionate short stature, bone fragility, skeletal deformities, or segmental malformations. The four targeted exome panels we offer allow for the analysis of genes involved in ossification, the extracellular matrix, and bone growth regulatory pathways, facilitating an accurate etiological diagnosis.
ABCC9, ABL1, ACAN, ACP5, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AFF3, AFF4, AGA, AGPS, AIFM1, AKT1, AKT2, ALDH3A2, ALG12, ALG3, ALG6, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANOS1, ANTXR1, ANTXR2, APC2, ARCN1, ARHGAP25, ARHGAP31, ARID1A, ARID1B, ARL6, ARSB, ARSK, ARSL, ASAH1, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, AXIN1, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B9D1, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL11B, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BNIP1, BPNT2, BTRC, C2CD3, CA2, CANT1, CASR, CBFB, CC2D2A, CCDC134, CCDC141, CCDC8, CCN2, CCN6, CCNQ, CDC45, CDC6, CDC73, CDH1, CDH3, CDK10, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP290, CFAP410, CHD7, CHST11, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COPB2, CPLANE1, CREB3L1, CREBBP, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSNK1G1, CSPP1, CSTA, CTSA, CTSC, CTSK, CUL7, CWC27, CYP26B1, CYP27B1, CYP2R1, CYP3A4, D2HGDH, DCC, DCHS1, DCTN1, DDR2, DDRGK1, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAJC21, DNMT3A, DOCK6, DONSON, DPAGT1, DPM1, DPYD, DROSHA, DSE, DUSP6, DVL1, DVL2, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDN1, EDNRA, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ELMO2, ELP1, EN1, ENAM, ENPP1, EOGT, EP300, EPCAM, EPS15L1, ERF, ERI1, ESCO2, EVC, EVC2, EXOC6B, EXOSC9, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FANCB, FAR1, FAT4, FBLN1, FBN1, FBN2, FBXW11, FBXW4, FERMT3, FEZF1, FGD1, FGF10, FGF16, FGF17, FGF23, FGF4, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FLRT3, FMN1, FN1, FOS, FUCA1, FZD2, GALNS, GALNT3, GBA1, GCM2, GDF3, GDF5, GDF6, GEMIN4, GHR, GINS2, GJA1, GLB1, GLI1, GLI2, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPNAT1, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPX4, GREM1, GRK2, GSC, GUSB, GZF1, HAAO, HDAC4, HDAC6, HDAC8, HEATR3, HES7, HESX1, HGSNAT, HHAT, HIF1A, HNRNPC, HNRNPK, HOXA11, HOXA13, HPGD, HRAS, HS2ST1, HS6ST1, HSPA9, HSPG2, HYAL1, IARS2, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL11RA, IL17RD, IL1RN, IL6ST, INPPL1, INTU, KANSL1, KAT6B, KCNJ2, KCNJ8, KDELR2, KIAA0586, KIAA0753, KIAA0825, KIF22, KIF24, KIF5B, KIF7, KL, KMT2A, KMT2D, KRAS, KYNU, LAMA5, LARP7, LBR, LEMD3, LFNG, LHX3, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRC8C, LRRK1, LTBP1, LTBP2, LTBP3, LYSET, LYZ, MAB21L2, MACROH2A1, MAFB, MAN2B1, MANBA, MAP2K1, MAP2K2, MAP3K20, MAP3K7, MAP4, MAPKAPK5, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MCOLN1, MECOM, MEGF8, MEOX1, MESD, MESP2, MET, MGP, MIA3, MID1, MKKS, MKS1, MLH3, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSH3, MSH6, MSX2, MTAP, MTX2, MYCN, MYH3, MYO18B, NADSYN1, NAGA, NAGLU, NANS, NBAS, NDNF, NEFH, NEK1, NEK9, NEPRO, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NMNAT1, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NRCAM, NSD1, NSD2, NSDHL, NSMCE2, NT5E, NTRK1, NXN, OBSL1, OFD1, ORC4, OSTM1, P3H1, P4HA1, P4HB, PAM16, PAPPA2, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PDGFRB, PDIA6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP3, PHEX, PHGDH, PHYH, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PISD, PITX1, PITX2, PKDCC, PLCB3, PLCB4, PLEKHM1, PLOD2, PLS3, PMM2, POC1A, POLE, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POLR3GL, POP1, POR, PORCN, PPIB, PRKACA, PRKACB, PRKAR1A, PRKG2, PRMT7, PROK2, PROKR2, PRPH, PRRX1, PSAT1, PSMC3, PSPH, PTBP1, PTDSS1, PTEN, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RFLNA, RFT1, RIGI, RINT1, RIPPLY2, RIT1, ROR2, RPGRIP1L, RPL10, RPL13, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCUBE3, SEC23A, SEC24D, SEMA3A, SERPINF1, SERPINH1, SETBP1, SETD2, SETD5, SF3B4, SFRP4, SGK3, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOC2, SHOX, SIK3, SIX1, SIX2, SKI, SLC10A7, SLC13A1, SLC17A5, SLC25A24, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35A3, SLC35B2, SLC35C1, SLC35D1, SLC39A13, SLC4A2, SLCO2A1, SLCO5A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SMOC1, SMS, SNRPB, SNX10, SOD1, SOS1, SOST, SOX10, SOX3, SOX9, SP7, SPARC, SPECC1L, SPRED1, SPRY4, SQSTM1, SRCAP, SRP54, STAC3, STT3A, SUCO, SULF1, SUMF1, SUZ12, TAB2, TACR3, TALDO1, TAPT1, TBC1D24, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TCF12, TCIRG1, TCOF1, TCTN2, TCTN3, TENT5A, TERT, TFAP2B, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, THRA, TMCO1, TMEM165, TMEM216, TMEM231, TMEM38B, TMEM53, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TOMM7, TONSL, TOP2B, TP63, TRAF3IP1, TRAF7, TRAIP, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TTC8, TWIST1, TXNL4A, TYROBP, UBA2, UFSP2, UNC45A, VAC14, VCP, VDR, VPS33A, VPS35L, WASHC5, WBP11, WDPCP, WDR11, WDR19, WDR35, WNT1, WNT10B, WNT3, WNT5A, WNT6, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZIC1, ZIC3, ZMPSTE24, ZNF462, ZNF687, ZSWIM6.
ALPL, ANO5, B3GALT6, B4GALT7, BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PHLDB1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1.
FGFR3 (c.1138G>A/C).
ADAMTS17, AKT3, ALX3, ARID1A, ARID1B, ARL6, ARMC9, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BLM, BMP2, BMP4, BMPR1B, BTRC, C2CD3, CC2D2A, CCDC28B, CCND2, CCNQ, CD96, CDH3, CDKN1C, CENPF, CEP120, CEP164, CEP290, CEP41, CFAP418, CHST11, CHSY1, CIBAR1, CILK1, CKAP2L, COG6, COL2A1, CPLANE1, CPLANE2, CREBBP, CSPP1, DDX59, DHCR7, DLX5, DLX6, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EFNB1, EFTUD2, EP300, EPS15L1, ERF, ERI1, ESCO2, EVC, EVC2, EXT1, FAM149B1, FBLN1, FBXW4, FGF10, FGF16, FGF4, FGFR1, FGFR2, FGFR3, FMN1, FRAS1, FREM2, GDF5, GDF6, GJA1, GLI1, GLI2, GLI3, GNAS, GPC3, GPC4, GRIP1, HDAC4, HDAC6, HMGB1, HNRNPK, HOXA13, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT80, IFT81, IHH, INPP5E, INTU, IQCE, KCNJ2, KIAA0586, KIAA0753, KIAA0825, KIF7, LBR, LEF1, LMBR1, LMNA, LRP4, LZTFL1, MAP3K20, MAPKAPK5, MAX, MBTPS2, MEGF8, MIPOL1, MKKS, MKS1, MYCN, NEK1, NOG, NPHP3, OFD1, PAX1, PDE3A, PDE4D, PDE6D, PIGV, PIK3CA, PIK3R2, PITX1, PORCN, PRKACA, PRKACB, PRMT7, PTDSS1, PTHLH, PUF60, RAB23, RAB34, RBBP8, RBM10, RECQL4, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SC5D, SCNM1, SETBP1, SHH, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMO, SMOC1, SOX9, STKLD1, SUFU, TBC1D24, TBX3, TBX5, TCTN2, TCTN3, TFAP2A, TFAP2B, TGDS, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TP63, TRAF3IP1, TRIM32, TRPS1, TRPV4, TTC21B, TTC8, TWIST1, UBA2, UBE3B, UQCC2, WDPCP, WDR19, WDR35, WNT10B, WNT6, WNT7A, ZNF141, ZNF33A, ZRSR2, ZSWIM6.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Craniofacial Dysmorphology I: 2 studies

Craniofacial dysmorphology encompasses a group of genetic disorders characterized by abnormalities in the development of the skull and facial structures, including craniosynostosis and other craniofacial malformations, which may occur in isolation or as part of a syndrome (such as Crouzon, Apert, Pfeiffer, Carpenter, or Pierre Robin syndromes, among others) and require a specialized diagnostic and multidisciplinary approach.
ACTB, ACTG1, ADAMTSL4, AHDC1, ALPL, ALX3, ALX4, ANKH, ANKRD11, ARID1B, ARSB, ASXL1, ASXL3, AXIN2, B3GAT3, BCL11B, BMP4, BRAF, CBL, CD96, CDC45, CDK13, CHD5, CHD7, COLEC10, COLEC11, CTSK, CYP26B1, DDX3X, DPF2, DPH1, EDNRB, EFNB1, ENPP1, ERF, ESCO2, FAM20C, FBN1, FBXO11, FGF10, FGF9, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FREM1, FUZ, GDF5, GLI3, GNAS, GNPTAB, GPC3, HNRNPK, HUWE1, IDS, IDUA, IFT122, IFT140, IFT43, IFT52, IHH, IL11RA, IL6ST, IRX5, JAG1, KAT6A, KAT6B, KMT2D, KPTN, KRAS, LRP5, LTBP1, MAF, MAN2B1, MAP3K7, MASP1, MEGF8, MSX2, NFIA, NFIX, NIPBL, NOG, OGT, P4HB, PAX3, PHEX, PJA1, POR, PPP1CB, PPP3CA, PRRX1, PTCH1, PTPN11, RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SHOC2, SIX1, SKI, SLC25A24, SMAD3, SMAD6, SMO, SNX10, SOX10, SOX6, SOX9, SPECC1L, SPRY1, STAT3, TCF12, TCOF1, TFAP2B, TGFBR1, TGFBR2, TLK2, TMCO1, TRAF7, TWIST1, TWIST2, WDR19, WDR35, ZEB2, ZIC1, ZNF462, ZSWIM6.
AFF4, ALX1, ALX3, ANKRD11, ARHGAP29, ARID1A, ARID1B, ARID2, BRD4, CREBBP, CTNND1, DPF2, DVL1, DVL3, EFNB1, EFTUD2, EP300, EVC, EVC2, FGF9, FGFR1, FGFR2, FGFR3, FOXE1, HDAC8, HSPG2, KANSL1, KDF1, KDM6A, KMT2D, MEGF8, MSX1, MSX2, MYO18B, NECTIN1, NIPBL, NXN, POLR1A, POLR1B, POLR1C, POLR1D, POR, RAB23, RAD21, ROR2, SF3B4, SKI, SLC25A24, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SRCAP, STAG2, TBX22, TCOF1, TGDS, TP63, TWIST1, WNT5A, ZNF148, ZSWIM6.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Connective Tissue Disorders I: 3 studies

Connective tissue disorders encompass genetic conditions that affect the structure, function, and strength of the extracellular matrix and collagen, including Ehlers-Danlos syndrome (EDS) and Marfan syndrome, as well as other clinically related conditions. These conditions can present with joint hypermobility, tissue fragility, and cardiovascular and skeletal abnormalities. We offer both a general targeted exome panel for connective tissue disorders and two targeted exome panels for the study of Ehlers-Danlos and Marfan syndromes and their differential diagnosis.
ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BMP1, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL25A1, COL27A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLGALT1, COX7B, CRB2, CRTAP, CYP11B1, CYP17A1, DDR2, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLCN, FLNA, FLNB, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, GORAB, HCN4, HGD, HLA-B, HNRNPK, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, KIFBP, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, P3H1, P3H2, P4HB, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD2, PLOD3, POR, PPIB, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, PYCR1, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SERPINH1, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469.
ACTA2, BGN, CBS, COL11A1, COL11A2, COL1A1, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, EFEMP2, ELN, FBN1, FBN2, FLNA, FOXE3, HCN4, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PKD1, PKD2, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2.
ABCC6, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL2A1, COL3A1, COL5A1, COL5A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, GORAB, PLOD1, PRDM5, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, THBS2, TNXB, ZNF469.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Growth Disorders I: 5 Studies

Growth disorders encompass a group of genetic conditions characterized by abnormalities in the regulation of body and skull growth, including overgrowth, macrocephaly, and short stature. These conditions may present with skeletal disproportions, craniofacial anomalies, and associated systemic features. We offer various targeted exome tests that analyze the genes involved in different growth disorders.
ABAT, ABCC9, AKT1, AKT2, AKT3, APC2, ASPA, ASXL2, BRWD3, CASK, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EIF2B5, EXT2, EZH2, FBN1, FBN2, FGFR3, FLNA, FMR1, GFAP, GLI3, GPC3, GPC4, GPR101, GPSM2, GRIA3, H1-4, H19, HEPACAM, HERC1, HMGA2, HRAS, HUWE1, IGF2, KCNQ1, KCNQ1OT1, KDM1A, KMT2C, KMT5B, KHDC3L, KIF7, KLLN, KPTN, L1CAM, MAX, MED12, MITF, MLC1, MPDZ, MTOR, MYCN, NF1, NFIB, NFIX, NLRP2, NLRP5, NLRP7, NSD1, NSD2, OFD1, PADI6, PAK1, PDGFRB, PHF6, PIGA, PIGN, PIK3CA, PIK3R2, PLAG1, PTCH1, PTEN, RAB39B, RASA1, RIN2, RNF125, RNF135, RTL1, SEC23B, SETD2, SMAD2, SMAD3, SMAD4, SUFU, SUZ12, SYN1, TBC1D7, TET3, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM94, TRIO, TSC1, TSC2, UPF3B, WASHC5, YAP1, ZBTB20, ZBTB7A, ZNF215.
Region 11p15.5 (H19, IGF2, CDKN1C, KCNQ1).
ABCG8, ACTB, ACTG1, AGPAT2, AMMECR1, APOE, ARCN1, ASXL1, ASXL2, ATR, ATRX, B3GAT3, B9D1, B9D2, BCS1L, BLM, BMP2, BMP4, BRAF, BSCL2, CBL, CC2D2A, CCDC8, CDC45, CDC6, CDH1, CDT1, CENPJ, CEP152, CEP290, CEP63, CHD7, CHSY1, COL27A1, COLEC10, CREB1, CREBBP, CSNK2A1, CTNNB1, CTNND1, CUL7, DHCR24, DHCR7, DLX4, DNMT3B, DONSON, DVL1, DVL3, EBP, EP300, EYA1, FDFT1, FGD1, FGFR1, FGFR2, FGFR3, FLNB, FLRT3, FN1, FOXC1, FOXL2, FZD2, GH1, GHR, GHRH, GHRHR, GHSR, GINS2, GLI2, GLI3, GMNN, GNAS, GRM8, HDAC8, HESX1, HNRNPK, HOXD13, HRAS, IDUA, IGF1, IGF1R, IGFALS, INSR, IRF6, IRS1, JAG1, KAT6A, KDM1A, KDM6A, KIF14, KLF9, KMT2A, KMT2D, KRAS, LARP7, LBR, LFNG, LHX3, LHX4, LMNA, LZTR1, MACROD2, MAMDC2, MAP2K1, MAP2K2, MCM3, MCM5, MCM7, MECP2, MED12, MKS1, NHLH2, NIPBL, NOTCH2, NPHP3, NRAS, NSDHL, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, PCNT, PIK3R1, PISD, PITX2, POC1A, POP1, POU1F1, PPP3CA, PRKCE, PRMT7, PROP1, PTPN11, PUF60, RAD21, RAF1, RALA, RASA2, RBBP8, RET, RIT1, RPGRIP1L, RPS6KA3, RRAS, RTTN, SC5D, SGMS2, SHH, SHOC2, SHOX, SIX1, SIX5, SMARCA2, SMARCE1, SMC1A, SMC3, SMC5, SOS1, SOX11, SOX2, SOX3, SRCAP, STAT5B, TALDO1, TASP1, TBX19, TBX2, TBX3, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67, TOP3A, TRIM37, TRMT10A, TWIST1, UBR1, WNT5A, XRCC4.
ACTB, ACTG1, ALG12, ALG3, AMPD2, ANKLE2, ASNS, ASPM, ASXL1, ATR, ATRX, BUB1, C2CD3, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, GPT2, IER3IP1, KATNB1, KIF11, KIF14, KIF1B, KIF2A, KIF5C, KNL1, LIG4, LMNB1, LMNB2, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NHEJ1, NIN, NIPBL, NUP37, ORC1, ORC4, ORC6, PAFAH1B1, PCDH12, PCNT, PDCD6IP, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, QARS1, RAD21, RARS2, RBBP8, RRP7A, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, SOX11, STAMBP, STIL, TAF13, THOC6, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDFY3, WDR62, WDR73, XRCC4, ZEB2, ZNF335.
A2ML1, ALPK3, BRAF, CBL, FGD1, HRAS, JAG1, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRY1, SYNGAP1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days