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Logo-Dreamgenics

Dismorfología

Se estima que alrededor de un 30–40% de las dismorfologías tienen un origen genético, debido a mutaciones o alteraciones cromosómicas que afectan al desarrollo
Áreas clínicas
Dismorfología esquelética
Dismorfología craneofacial
Alteraciones del tejido conectivo
Trastornos del crecimiento
Documentación
Hoja de solicitud

Dismorfología esquelética I 4 estudios

Dentro de la dismorfología esquelética se incluyen las displasias esqueléticas, la osteogénesis imperfecta, la acondroplasia y las anomalías congénitas de las extremidades, entidades genéticas caracterizadas por alteraciones en el desarrollo y la homeostasis del tejido óseo y cartilaginoso. Estas pueden manifestarse con talla baja desproporcionada, fragilidad ósea, deformidades esqueléticas o malformaciones segmentarias. Los cuatros exomas dirigidos que ofrecemos permiten analizar los genes implicados en la osificación, la matriz extracelular y las vías reguladoras del crecimiento óseo facilitando un diagnóstico etiológico preciso.
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.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Dismorfología craneofacial I 2 estudios

La dismorfología craneofacial engloba un conjunto de trastornos genéticos caracterizados por alteraciones en el desarrollo del cráneo y las estructuras faciales, incluyendo craneosinostosis y otras malformaciones craneofaciales, que pueden presentarse de forma aislada o sindrómica (síndrome de Crouzon, Apert, Pfeiffer, Carpenter o Pierre Robin entre otros) y requerir un abordaje diagnóstico y multidisciplinar especializado.
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.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Alteraciones del tejido conectivo I 3 estudios

Los trastornos del tejido conectivo agrupan enfermedades genéticas que afectan la estructura, función y resistencia de la matriz extracelular y del colágeno, incluyendo el Síndrome de Ehlers-Danlos (EDS) y el Síndrome de Marfan así como otras entidades clínicamente relacionadas. Estas patologías pueden manifestarse con hiperlaxitud articular, fragilidad tisular, alteraciones cardiovasculares y esqueléticas. Ofrecemos tanto un exoma dirigido general para alteraciones del tejido conectivo como dos exomas dirigidos al estudio de los síndromes de Ehlers-Danlos y Marfan y su diagnóstico diferencial.
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.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Trastornos del crecimiento I 5 estudios

Los trastornos del crecimiento engloban un conjunto de enfermedades genéticas caracterizadas por alteraciones en la regulación del crecimiento corporal y craneal, incluyendo sobrecrecimiento y macrocefalia o talla baja. Estas condiciones pueden manifestarse con desproporciones esqueléticas, anomalías craneofaciales y rasgos sistémicos asociados Ofrecemos distintos exomas dirigidos que analizan los genes implicados en los diferentes trastornos del crecimiento.
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.
Región 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.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables