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Gastrointestinal diseases

BILIARY CIRRHOSIS/LIVER FIBROSIS:
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

CONGENITAL ABNORMALITIES OF THE GASTROINTESTINAL TRACT:
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

CONGENITAL DIARRHEA AND ENTEROPATHIES:
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 ATRESIA:
14 genes – Delivery time: 3-4 weeks

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

GLOBAL LIVER DISEASES:
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

HEREDITARY CHOLESTASIS:
140 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, 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

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

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

HEREDITARY GASTROINTESTINAL CANCER:
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

HIRSCHSPRUNG 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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