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Enfermedades gastrointestinales

ANOMALÍAS CONGÉNITAS DEL TRACTO GASTROINTESTINAL: 161 genes – Plazos de entrega: 3-4 semanas

ABCB11, ABCB4, ABCC2, ACTG1, ACVR2B, AMER1, ARFGEF2, ASXL3, ATP8B1, BHMT, BRCA2, CDH18, CDKN1C, CDX1, CFAP53, CFTR, CHD7, CLCN4, CLMP, CRB2, CTNND2, DDX3X, DHCR7, DHODH, DISP1, DLST, DST, DYNC2H1, ECE1, EDN3, EDNRB, EFNB1, EFTUD2, ERCC4, EYA1, FANCA, FANCB, FANCC, FANCD2, FANCG, FBN1, FHOD3, FLNA, FOXA2, FOXF1, FRAS1, FREM1, FREM2, GABRB3, GATA4, GATA5, GATA6, GDNF, GLI2, GLI3, GRB10, GSC, GUCY2C, HNF1B, HOXD13, HSPD1, HSPG2, IFT140, IFT27, INTU, ITGA6, ITGB2, ITGB4, JAG1, KCNH1, KDM6A, KMT2D, LBR, LEFTY2, LHFPL5, LONP1, LRP2, MAP3K15, MAPRE2, MECP2, MID1, MKKS, MMP14, MNX1, MPDZ, MTHFR, MYCN, MYH14, MYO5B, MYOD1, NAA15, NEB, NHS, NIPBL, NKX2-5, NLGN1, NODAL, NOG, NOS1, NOTCH1, NOTCH2, NR0B1, NR2F2, NRTN, NRXN1, NRXN3, NSD1, OGT, PBX1, PCSK5, PDGFRA, PDX1, PFKL, PIGN, PITX2, PKD1L1, PLAT, PLEC, PODXL, POGZ, POLE, PPARGC1A, PRF1, PTEN, PTF1A, PTPN12, PTPN14, RARB, RET, RFX6, SETD5, SF3B4, SGCD, SHH, SHROOM4, SLC26A3, SLC29A4, SOX2, SPINK5, SPINT2, STAG2, STIM1, TBC1D4, TBX1, TBX4, TBX5, TCF7L2, TCN2, TMEM70, TP63, TRPC6, TTC7A, TUBGCP6, TXNL4A, TXNRD2, UGT1A1, WT1, ZEB2, ZFPM2, ZIC2, ZIC3

ATRESIA GASTROINTESTINAL: 14 genes – Plazos de entrega: 3-4 semanas

CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MNX1, MYCN, PTF1A, RFX6, SOX2, TTC7A

CÁNCER GASTROINTESTINAL HEREDITARIO: 52 genes – Plazos de entrega: 3-4 semanas

APC, ATM, AXIN2, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BUB1B, CDH1, CDKN1B, CDKN2A, CHEK2, CTNNA1, EPCAM, FANCC, GALNT12, GREM1, KIT, MAP3K6, MEN1, MLH1, MLH3, MSH2, MSH3, MSH6, MSR1, MUTYH, NF1, NTHL1, PALB2, PC, PDGFRA, PMS1, PMS2, POLD1, POLE, PTEN, RHBDF2, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, TMEM127, TP53, TSC1, TSC2, VHL, WRN

CIRROSIS BILIAR/ FIBROSIS HEPÁTICA: 93 genes – Plazos de entrega: 3-4 semanas

ABCB11, ABCB4, AHI1, AKR1D1, ANKS6, APOC2, ARL13B, ARL6, ATP8B1, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP164, CEP290, CEP41, CFTR, CLDN1, CPLANE1, CREB3L3, CTRC, CYP7B1, DCDC2, DGUOK, EPCAM, FAH, GLIS2, GPIHBP1, HSD3B7, INPP5E, INVS, IQCB1, JAG1, KIF7, LIPA, LMF1, MKKS, MKS1, MPV17, MVK, MYO5B, NCF2, NEK8, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OFD1, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, PKD2, PKHD1, RPGRIP1L, SEC63, SERPINA1, SKIV2L, SLC25A13, SMPD1, SPINK1, TCTN1, TCTN2, TCTN3, TJP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM32, TRMU, TTC21B, TTC37, TTC8, UBR1, WDR19, WDR35, XIAP, ZNF423

COLESTASIS HEREDITARIA: 140 genes – Plazos de entrega: 3-4 semanas

ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ADK, AKR1C4, AKR1D1, ALAS2, ALDOB, ALG1, ALG8, AMACR, ANKS6, AP1S1, ARG1, ASS1, ATP7B, ATP8B1, B4GALT1, BAAT, BCS1L, BLVRA, CC2D2A, CDAN1, CFTR, CLDN1, COG6, COG7, CREB3L3, CTNS, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EHHADH, EPCAM, EPHX1, FAH, FECH, FH, G6PD, GALE, GALT, GBA, GBE1, GLI2, GLIS3, GNAS, GPBAR1, HADHA, HADHB, HAMP, HFE, HNF1A, HNF1B, HSD17B4, HSD3B7, INVS, ITCH, JAG1, KMT2D, LCT, LIPA, LMF1, MKS1, MMACHC, MPV17, MVK, MYO5B, NEK8, NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1L1, PKHD1, POLG, POMC, PTF1A, RFX6, SC5D, SCP2, SERAC1, SERPINA1, SLC10A1, SLC10A2, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A3, SLC27A5, SLC30A10, SLCO1B1, SLCO1B3, SMPD1, SMS, SPINT2, STXBP2, TALDO1, TBX19, TFAM, TFR2, TJP2, TMEM216, TRAPPC11, TRMU, TSFM, TTC37, TWNK, UGT1A1, USP53, UTP4, VIPAS39, VMA21, VPS33B

DIARREA CONGÉNITA Y ENTEROPATÍAS: 177 genes – Plazos de entrega: 3-4 semanas

ABCB11, ABCB4, ACTG2, ADA, ADAM17, AICDA, AIRE, AKR1D1, ALG6, ANGPTL3, AP1S1, AP3B1, AP3D1, APOB, ARX, ATM, BAAT, BCL10, BLOC1S3, BLOC1S6, BMPR1A, BTK, CARD11, CARD8, CARD9, CASP10, CASP8, CCBE1, CD19, CD3D, CD3E, CD3G, CD40, CD40LG, CD55, CD79B, CD81, CFTR, CLMP, COL7A1, CR2, CTLA4, CTRC, CYBA, CYBB, CYP27A1, CYP7B1, DCLRE1C, DEF6, DGAT1, DGUOK, DKC1, DOCK8, DTNBP1, DUOX2, EGFR, ELANE, ELF4, EPCAM, FADD, FAS, FASLG, FLNA, FOXP3, G6PC3, GUCY2C, HPS1, HPS3, HPS4, HPS5, HPS6, HSD3B7, ICOS, IKBKG, IL10, IL10RA, IL10RB, IL12RB1, IL21, IL2RA, IL2RG, IL7R, ITCH, ITGB2, ITK, JAK1, JAK3, KMT2D, KRAS, LCT, LIG4, LIPA, LMAN1, LMF1, LRBA, MAGT1, MALT1, MASP2, MBL2, MEFV, MPI, MPV17, MS4A1, MTTP, MVK, MYO5B, NCF2, NCF4, NEUROG3, NFAT5, NFKB2, NHEJ1, NLRC4, NOD2, NPC1L1, NRAS, PCSK1, PCSK9, PEX12, PIK3CD, PIK3R1, PLCG2, PNLIP, PNP, POLA1, PRSS1, PTF1A, RAG1, RAG2, RET, RFX6, RTEL1, SAMD9, SAR1B, SBDS, SH2D1A, SI, SKIV2L, SLC10A2, SLC26A3, SLC2A2, SLC37A4, SLC39A4, SLC5A1, SLC7A7, SLC9A3, SLCO2A1, SMAD2, SMAD3, SPINK1, SPINT2, STAT1, STAT3, STAT5B, STIM1, STXBP2, SYK, TCN2, TERT, TGFB1, TGFB2, TGFBR1, TGFBR2, TJP2, TMPRSS15, TNFAIP3, TNFRSF13C, TREH, TRIM22, TTC37, TTC7A, UBR1, UBR5, WAS, XIAP, ZAP70, ZFP57

ENFERMEDAD DE HIRSCHSPRUNG: 18 genes – Plazos de entrega: 3-4 semanas

ASCL1, BDNF, ECE1, EDN3, EDNRB, GDNF, KIF1BP, L1CAM, MITF, NRG1, NRTN, PAX3, PHOX2B, RET, SEMA3A, SEMA3D, SOX10, ZEB2

ENFERMEDAD INFLAMATORIA INTESTINAL: 119 genes – Plazos de entrega: 3-4 semanas

ADA, ADAM17, AICDA, AIRE, ATG16L1, BTK, CARD8, CASP8, CD19, CD3G, CD40, CD40LG, CD55, CD81, CHD7, CIITA, COL7A1, CR2, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, DUOX2, ERAP2, FERMT1, FOXP3, FUT2, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL18RAP, IL21, IL23R, IL2RA, IL2RG, IL7R, IRGM, ITCH, ITGAM, ITGB2, JAK1, LCK, LIG4, LRBA, LYST, MALT1, MEFV, MVK, MYO5A, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKB2, NLRC4, NLRP12, NOD2, NOP10, NPC1, PIK3CD, PIK3R1, PLCG2, POLA1, PRF1, PTEN, PTPN22, RAB27A, RAC1, RAC2, RAG1, RAG2, RB1, RET, RFX5, RFXANK, RFXAP, RTEL1, SH2D1A, SI, SKIV2L, SLC37A4, SLC9A3, SLCO2A1, STAT1, STAT3, STAT5B, STIM1, STXBP2, STXBP3, TAP1, TAP2, TERT, TGFB1, TGFBR1, TGFBR2, TINF2, TNFAIP3, TNFRSF13B, TRAF3, TRIM22, TTC37, TTC7A, UNC13D, UNG, WAS, XIAP, ZAP70, ZBTB24

ENFERMEDADES HEPÁTICAS GLOBAL: 195 genes – Plazos de entrega: 3-4 semanas

ABCB11, ABCB4, ABCC12, ABCC2, ABCD3, ABCG5, ABCG8, ACADM, ACADVL, ADK, AGL, AGPAT2, AHI1, AKR1D1, ALAD, ALDOB, ALG8, AMACR, ANKS6, APOC2, ARL13B, ARL6, ASL, ASS1, ATP7B, ATP8B1, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BSCL2, CAVIN1, CC2D2A, CEP164, CEP290, CEP41, CFTR, CLDN1, COG1, COG6, COG7, CPLANE1, CPS1, CPT1A, CPT2, CREB3L3, CTRC, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, DLD, EHHADH, EIF2AK3, EPCAM, EPHX1, ETFA, ETFB, ETFDH, FAH, FARS2, GAA, GALE, GALT, GBA, GBE1, GFM1, GLIS2, GPBAR1, GPIHBP1, GYS2, HADHA, HMGCL, HNF1A, HNF1B, HSD17B4, HSD3B7, INPP5E, INVS, IQCB1, JAG1, KIF7, KRT18, KRT8, LCT, LIPA, LMF1, LMNA, LRP5, MKKS, MKS1, MPI, MPV17, MRPS16, MVK, MYO5B, NBAS, NCF2, NEK8, NEUROG3, NGLY1, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OFD1, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKD1, PKD2, PKHD1, PKLR, PMM2, POLG, PRKCSH, PYGL, RPGRIP1L, SBDS, SCO1, SCP2, SEC63, SERPINA1, SKIV2L, SLC10A1, SLC10A2, SLC25A13, SLC25A20, SLC26A3, SLC27A5, SLC37A4, SMPD1, SPINK1, SPINT2, STT3B, SUCLG1, TCTN1, TCTN2, TCTN3, TFAM, TJP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM32, TRMU, TSFM, TTC21B, TTC37, TTC8, TWNK, TYMP, UBR1, UGT1A1, USP53, VIL1, VIPAS39, VPS33B, WDR19, WDR35, XIAP, ZIC3, ZNF423

PANCREATITIS CRÓNICA HEREDITARIA: 11 genes – Plazos de entrega: 3-4 semanas

APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, PRSS1, SBDS, SPINK1, UBR1

BUSCADOR POR ENFERMEDAD O GEN