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Gastrointestinal diseases

CHOLESTASIS, HEREDITARY: 141 genes – Delivery time: 3-4 weeks

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, SEMA7A, 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

CHOLESTASIS, PROGRESSIVE, FAMILIAL INTRAHEPATIC / NEONATAL: 9 genes – Delivery time: 3-4 weeks

ABCB11, ABCB4, ATP8B1, MYO5B, NR1H4, SEMA7A, SLC25A13, TJP2, USP53

CHRONIC PANCREATITIS: 11 genes – Delivery time: 3-4 weeks

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

DIARRHEA AND ENTEROPATHIES, CONGENITAL: 177 genes – Delivery time: 3-4 weeks

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

GASTROINTESTINAL ANOMALIES, CONGENITAL: 161 genes – Delivery time: 3-4 weeks

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

GASTROINTESTINAL ATRESIA: 14 genes – Delivery time: 3-4 weeks

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

GASTROINTESTINAL CANCER, HEREDITARY: 52 genes – Delivery time: 3-4 weeks

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

HEPATIC DISEASES, GLOBAL: 195 genes – Delivery time: 3-4 weeks

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

HEPATIC FIBRISIS / BILIARY CIRRHOSIS: 93 genes – Delivery time: 3-4 weeks

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

HIRSCHSPRUNG´S DISEASE: 18 genes – Delivery time: 3-4 weeks

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

INFLAMMATORY BOWEL DISEASE: 119 genes – Delivery time: 3-4 weeks

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

POLYCYSTIC LIVER DISEASE: 7 genes – Delivery time: 3-4 weeks

ALG8, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63

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