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Enfermedades renales y tubulopatías hereditarias

ACIDOSIS TUBULAR RENAL: 7 genes – Plazos de entrega: 3-4 semanas

ATP6V0A4, ATP6V1B1, CA2, HNF4A, SLC34A1, SLC4A1, SLC4A4

AGENESIA RENAL: 11 genes – Plazos de entrega: 3-4 semanas

BMP4, DSTYK, FGF20, FRAS1, FREM1, FREM2, GFRA1, ITGA8, RET, UPK3A, WNT9B

AMINOACIDURIAS: 13 genes – Plazos de entrega: 3-4 semanas

EHHADH, GATM, HNF4A, NDUFAF6, SLC1A1, SLC2A2, SLC34A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9

ANOMALÍAS CONGÉNITAS DEL RIÑÓN Y EL TRACTO URINARIO (CAKUT): 86 genes – Plazos de entrega: 3-4 semanas

ACE, ACTA2, ACTG2, AGT, AGTR1, ANOS1, BICC1, BMP4, BMP7, BNC2, BSND, CDC5L, CHD1L, CHD7, CHRM3, COX10, CRKL, DCHS1, DLG3, DSTYK, EYA1, FANCB, FAT4, FGF20, FGFR2, FOXC1, FOXC2, FOXP1, FRAS1, FREM1, FREM2, GATA3, GDNF, GLI2, GLI3, GREM1, GRIP1, HCN3, HNF1B, HOXA13, HOXA4, HOXB6, HPSE2, ITGA8, KIT, KYNU, LIFR, LRIG2, LRP4, MUC1, MYH11, MYH9, NEK8, NIPBL, NOTCH2, NPHP3, NRIP1, OCRL, PAX2, PBX1, PUF60, REN, RET, ROBO1, ROBO2, RPGRIP1L, RRM2B, SALL1, SALL4, SHH, SIX1, SIX2, SIX5, SMARCA4, SOX11, SOX17, TBC1D1, TBX18, TNXB, TRAP1, UMOD, UPK3A, VIPAS39, VPS33B, WNT4, WT1

CANALOPATÍAS RENALES: 10 genes – Plazos de entrega: 3-4 semanas

BSND, CLCNKA, CLCNKB, KCNJ1, PKD2, SCNN1A, SCNN1B, SCNN1G, TRPC6, TRPM6

CÁNCER RENAL/URINARIO HEREDITARIO: 40 genes – Plazos de entrega: 3-4 semanas

BAP1, BUB1B, CDC73, CDKN1C, CEP57, CHEK2, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, HNF1A, HNF1B, HRAS, MET, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PBRM1, PMS1, PMS2, PRCC, PTEN, REST, RNF139, SDHA, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, TP53, TSC1, TSC2, VHL, WT1

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

ENFERMEDADES RENALES/ NEFROLÓGICAS GLOBAL: 805 genes – Plazos de entrega: 3-4 semanas

ABCB11, ABCB4, ABCC2, ABCC6, ABCD3, ABCG5, ABCG8, ACE, ACOX1, ACP5, ACSL4, ACTG2, ACTN4, ACVR2B, ACVRL1, ADA2, ADAMTS13, ADCY10, ADK, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, AKR1C4, AKR1D1, ALAS2, ALDH1A2, ALDOB, ALG1, ALG5, ALG8, ALG9, ALMS1, ALPL, AMACR, AMER1, AMN, ANKH, ANKS6, ANLN, ANO5, ANOS1, AP1S1, AP2S1, APOA1, APOE, APOL1, APRT, AQP2, ARG1, ARHGAP24, ARHGAP31, ARHGDIA, ARL13B, ARL3, ARL6, ARMC5, ASS1, ATP1A1, ATP6V0A4, ATP6V1B1, ATP7B, ATP8B1, ATR, ATXN10, AVP, AVPR2, B2M, B4GALT1, B9D1, B9D2, BAAT, BAP1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BLVRA, BMP1, BMP4, BMP7, BMPR1B, BNC2, BSND, BUB1B, C1QA, C1QB, C1QC, C1S, C2, C2CD3, C3, C3AR1, C4A, C4BPA, C5, C8A, C8orf37, C9, CA2, CABP4, CACNA1D, CACNA1H, CANT1, CASP10, CASR, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCND1, CCNO, CCNQ, CD151, CD19, CD2AP, CD46, CD55, CD59, CD81, CDAN1, CDC5L, CDC73, CDKN1C, CELSR2, CENPJ, CEP120, CEP152, CEP164, CEP19, CEP290, CEP41, CEP57, CEP83, CFAP298, CFAP410, CFAP53, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD1L, CHD7, CHEK2, CHRNA3, CHST3, CHSY1, CLCN2, CLCN5, CLCNKA, CLCNKB, CLDN1, CLDN16, CLDN19, CLPB, CLU, CNNM2, COG6, COG7, COL10A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A3, COLEC11, COMP, COQ2, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX20, COX6B1, CPE, CPLANE1, CPT1A, CPT2, CR1, CR2, CRB1, CRB2, CREB3L3, CREBBP, CRELD1, CRTAP, CRX, CSPP1, CTNS, CUBN, CUL3, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, CYP2R1, CYP7A1, CYP7B1, DACH1, DCDC2, DDR2, DDX59, DGKE, DGUOK, DHCR7, DHFR, DHTKD1, DICER1, DIS3L2, DKC1, DLC1, DLG3, DLG5, DLL3, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNASE1L3, DRC1, DSTYK, DUSP6, DYM, DYNC2H1, EBP, EGF, EHHADH, EIF2AK3, EMP2, ENG, ENPP1, EPCAM, EPHX1, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, EVC, EVC2, EXOC8, EXT1, EXT2, EYA1, F12, FAH, FAM20A, FAM20C, FAN1, FANCB, FAS, FASLG, FASTKD2, FAT1, FAT4, FBN3, FBXW7, FECH, FEZF1, FGA, FGF17, FGF20, FGF23, FGF8, FGFR1, FGFR2, FH, FKBP10, FLCN, FLNB, FLRT3, FN1, FOXC1, FOXC2, FOXI1, FOXP1, FRAS1, FREM1, FREM2, FSHB, FXYD2, G6PC, G6PD, GALE, GALNT3, GALT, GATA2, GATA3, GATA6, GATM, GBA, GBE1, GDF1, GDF2, GDF5, GDNF, GFM1, GFRA1, GHR, GLA, GLB1, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNAS, GNPAT, GNRH1, GNRHR, GPBAR1, GPC3, GPC5, GPC6, GPHN, GREM1, GRHPR, GRIP1, GSN, GUCY2D, HADHA, HADHB, HAMP, HESX1, HEXA, HFE, HNF1A, HNF1B, HNF4A, HOGA1, HOXA13, HOXA4, HOXB6, HOXD13, HPRT1, HPSE2, HRAS, HS6ST1, HSD11B2, HSD17B4, HSD3B7, HSPG2, HYDIN, HYLS1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IHH, IL17RD, IMPDH1, INF2, INPP5E, INPPL1, INTU, INVS, IQCB1, ITCH, ITGA3, ITGA6, ITGA8, ITGB4, ITSN1, ITSN2, JAG1, KANK1, KANK2, KANK4, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KCTD1, KDM6A, KIF14, KIF22, KIF7, KISS1, KISS1R, KL, KLHL3, KMT2D, KYNU, LAMA5, LAMB2, LAMC2, LBR, LCA5, LCAT, LCT, LEP, LEPR, LHB, LHX3, LHX4, LIFR, LIPA, LMF1, LMNA, LMNB2, LMX1B, LRAT, LRIG2, LRP2, LRP4, LRP5, LYZ, LZTFL1, MAFB, MAGI2, MASP1, MATN3, MCEE, MEFV, MERTK, MESP2, MET, MGP, MITF, MKKS, MKS1, MLH1, MMAA, MMAB, MMACHC, MMADHC, MMP13, MMP9, MOCOS, MOCS1, MOCS2, MPV17, MRPS22, MSH2, MSH6, MTR, MTRR, MUC1, MUTYH, MVK, MYH9, MYO1E, MYO5B, MYO7A, MYOCD, NARS2, NBAS, NEIL1, NEK1, NEK8, NEU1, NEUROG3, NFKB2, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NMNAT1, NODAL, NOG, NOP10, NOS1AP, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR0B2, NR1H4, NR3C2, NRIP1, NSDHL, NSMF, NUP107, NXF5, OBSL1, OCRL, OFD1, OSR1, OTC, OTX2, P3H1, PALB2, PAPSS2, PARN, PAX2, PBRM1, PBX1, PC, PCBD1, PCSK1, PDE4D, PDE6D, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM3, PHB, PHEX, PHF6, PIBF1, PIGA, PIGT, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLCG2, PLG, PLOD2, PMM2, PMS1, PMS2, PNPLA6, POC1B, PODXL, POLG, POLR3B, POMC, POU1F1, PPARG, PPIB, PRCC, PREPL, PRKAR1A, PRKCD, PRKCSH, PROK2, PROKR2, PROM1, PROP1, PRPH2, PRPS1, PTEN, PTF1A, PTH1R, PTHLH, PTPRO, PUF60, PXDN, RBBP8, RD3, RDH12, RDH5, REN, REST, RET, RFX6, RHO, RLBP1, RMND1, RNF139, RNF216, ROBO1, ROBO2, ROR2, RPE65, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SARS2, SBDS, SC5D, SCAPER, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SCO1, SCP2, SDCCAG8, SDHA, SDHB, SDHC, SDHD, SEC63, SEMA3A, SEMA3E, SERAC1, SERPINA1, SERPINF1, SERPINH1, SH3PXD2B, SIX1, SIX2, SIX5, SLC10A1, SLC10A2, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A7, SLC17A5, SLC19A2, SLC19A3, SLC1A1, SLC22A12, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A1, SLC26A2, SLC26A3, SLC27A5, SLC2A2, SLC2A9, SLC30A10, SLC34A1, SLC34A3, SLC35D1, SLC36A2, SLC37A4, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC4A5, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLCO1B1, SLCO1B3, SMARCA4, SMARCAL1, SMARCB1, SMPD1, SMS, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX9, SPAG1, SPATA7, SPINT2, SPRY4, STRA6, STRADA, STS, STXBP2, SUFU, SYNPO, TAC3, TACO1, TACR3, TALDO1, TBC1D1, TBX15, TBX18, TBX19, TBX3, TBX5, TBX6, TCTN1, TCTN2, TCTN3, TFAM, TFAP2A, TFR2, THBD, TJP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNFRSF11B, TNFRSF1A, TNS2, TNXB, TP53, TP53RK, TRAF3IP1, TRAP1, TRAPPC11, TREX1, TRIM32, TRIP11, TRMU, TRPC6, TRPM6, TRPS1, TRPV4, TSC1, TSC2, TSFM, TTC21B, TTC37, TTC8, TTR, TULP1, TWNK, UGT1A1, UMOD, UPK3A, USP53, UTP4, VDR, VHL, VIPAS39, VMA21, VPS33B, VWF, WAS, WDPCP, WDR11, WDR19, WDR34, WDR35, WDR4, WDR60, WDR72, WDR73, WNK1, WNK4, WNT4, WNT5A, WNT7A, WNT9B, WT1, XDH, XPNPEP3, XPO5, XYLT1, YAP1, ZAP70, ZEB1, ZIC3, ZMPSTE24, ZMYM2, ZMYND10, ZNF423

GLOMERULOESCLEROSIS/GLOMERULONEFRITIS FOCAL Y SEGMENTARIA: 63 genes – Plazos de entrega: 3-4 semanas

ACSL4, ACTN4, ALDH1A2, ALG1, ANLN, APOE, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, DGKE, EMP2, FAN1, FAT1, FBXW7, FN1, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMA5, LAMB2, LMNA, LMX1B, MAGI2, MYH9, MYO1E, NEIL1, NPHP1, NPHP4, NPHS1, NPHS2, NUP107, NXF5, PAX2, PDSS2, PLCE1, PMM2, PODXL, PTPRO, SCARB2, SMARCAL1, SYNPO, TRPC6, TTC21B, WDR73, WT1, XPNPEP3, XPO5, ZEB1, ZMPSTE24

GLOMERULOPATÍAS GLOBAL: 189 genes – Plazos de entrega: 3-4 semanas

ACTN4, ACVRL1, ADA2, ADAMTS13, AHI1, ALG1, ALMS1, AMN, ANKS6, ANLN, APOA1, APOE, APOL1, ARHGAP24, ARHGDIA, ARL13B, B2M, BBIP1, BBS10, BBS9, C1QA, C1QB, C1QC, C1S, C2, C3, C4A, C5, CASP10, CC2D2A, CD151, CD19, CD2AP, CD46, CD81, CEP164, CEP290, CEP41, CEP83, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CLCN5, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8A, COQ8B, COQ9, CRB2, CUBN, CYP11B2, DCDC2, DGKE, DHFR, DHTKD1, DKC1, DLC1, DLG3, DNASE1L3, EMP2, ENG, ERCC6, ERCC8, FAH, FAT1, FGA, FN1, FOXC2, G6PC, GATA3, GATA6, GDF2, GLA, GLB1, GLIS2, GRHPR, GSN, HNF1B, IFT140, IFT172, IFT27, INF2, INVS, IQCB1, ITGA3, ITGB4, ITSN1, ITSN2, KANK1, KANK2, KANK4, LAMA5, LAMB2, LAMC2, LCAT, LMNA, LMNB2, LMX1B, LYZ, LZTFL1, MAFB, MAGI2, MEFV, MMACHC, MTR, MTRR, MVK, MYH9, MYO1E, NARS2, NEIL1, NEK8, NEU1, NLRP3, NOP10, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NUP107, NXF5, OCRL, PAX2, PDSS1, PDSS2, PGK1, PGM3, PIGA, PIGT, PLCE1, PLCG2, PLG, PMM2, PODXL, PRKCD, PTPRO, RPGRIP1L, SARS2, SCARB2, SDCCAG8, SLC17A5, SLC19A2, SLC19A3, SLC1A1, SLC37A4, SLC3A1, SLC7A7, SLC7A9, SMARCAL1, SOX18, SYNPO, THBD, TMEM138, TMEM231, TMEM67, TNFRSF1A, TNS2, TP53RK, TRAF3IP1, TREX1, TRPC6, TTC21B, TTR, UMOD, VIPAS39, VPS33B, WAS, WDR19, WDR35, WDR73, WT1, XPNPEP3, XPO5, YAP1, ZAP70, ZMPSTE24, ZNF423

HIPOMAGNESEMIA: 21 genes – Plazos de entrega: 3-4 semanas

BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, EGF, EGFR, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, NIPA2, PCBD1, SARS2, SLC12A3, TRPM6, TRPM7

MALFORMACIÓN RENAL CONGÉNITA: 99 genes – Plazos de entrega: 3-4 semanas

ACE, ACTG2, AGT, AGTR1, ANOS1, ARL3, ARL6, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BMP4, BMP7, C2CD3, C8orf37, CCDC28B, CCNQ, CDC5L, CEP120, CHD1L, CHD7, COLEC11, CPLANE1, CPT2, DDX59, DSTYK, EVC, EVC2, EYA1, FANCB, FGF20, FGFR2, FOXC2, FRAS1, FREM1, FREM2, GATA3, GLI3, GPC3, GRIP1, HNF1B, HOXA13, HOXA4, HOXB6, HPSE2, HYLS1, IFT172, INTU, ITGA6, ITGA8, ITGB4, KIF14, KIF7, KYNU, LMNA, LRP4, MASP1, MKKS, MKS1, MUC1, MYH9, NIPBL, NPHP3, NRIP1, PAX2, PBX1, PDE6D, PEX1, PUF60, REN, RET, ROBO2, ROR2, SALL1, SDCCAG8, SEMA3E, SIX1, SIX2, SIX5, SOX17, TBX18, TCTN3, TFAP2A, TMEM216, TNXB, TRAP1, TRIM32, TTC8, UMOD, UPK3A, WDR19, WNT4, WNT5A, WT1, ZMPSTE24

NEFROLITIASIS Y NEFROCALCINOSIS: 50 genes – Plazos de entrega: 3-4 semanas

ADCY10, AGXT, ALPL, AP2S1, APRT, ATP6V0A4, ATP6V1B1, ATP7B, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CLPB, CYP24A1, FAM20A, FOXI1, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, LRP2, MOCOS, MOCS1, MOCS2, OCRL, PEX6, PHEX, PREPL, PRPS1, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, STRADA, UMOD, VDR, XDH

NEFRONOPTISIS: 35 genes – Plazos de entrega: 3-4 semanas

AHI1, ANKS6, ARL6, CC2D2A, CCDC40, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, IFT172, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, SLC4A4, TCTN1, TMEM138, TMEM216, TMEM237, TMEM67, TRAF3IP1, TTC21B, WDR19, WDR35, XPNPEP3, ZNF423

PSEUDOHIPOALDOSTERONISMO: 10 genes – Plazos de entrega: 3-4 semanas

CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4

RAQUITISMO HIPOFOSFATÉMICO FAMILIAR/ HIPOFOSFATASIA: 22 genes – Plazos de entrega: 3-4 semanas

ALPL, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, EHHADH, ENPP1, FAH, FAM20C, FGF23, FGFR1, GATM, GNAS, KL, NDUFAF6, OCRL, PHEX, SLC2A2, SLC34A1, SLC34A3, VDR

SÍNDROME DE ALPORT: 11 genes – Plazos de entrega: 3-4 semanas

BSND, CD151, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, GATA3, MYH9, NPHS1, NPHS2

SÍNDROME DE BARDET-BIEDL: 34 genes – Plazos de entrega: 3-4 semanas

ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP164, CEP19, CEP290, CPE, FBN3, IFT172, IFT27, KIF7, LZTFL1, MKKS, MKS1, NPHP1, PNPLA6, SCAPER, SCLT1, SDCCAG8, TMEM67, TRIM32, TTC21B, TTC8, WDPCP

SÍNDROME DE BARTTER: 56 genes – Plazos de entrega: 3-4 semanas

ALMS1, AP2S1, ARL6, ATP6V0A4, ATP6V1B1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BSND, CA2, CASR, CEP290, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, FXYD2, GNA11, HNF1B, HSD11B2, IFT172, KCNJ1, KCNJ10, KLHL3, LZTFL1, MKKS, MKS1, NPHP1, NR3C2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A7, SLC26A3, SLC4A1, SLC4A4, SLC4A5, TMEM67, TRIM32, TRPM6, TTC8, WDPCP, WNK1, WNK4

SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE: 20 genes – Plazos de entrega: 3-4 semanas

AHI1, B9D1, B9D2, CC2D2A, CEP290, CSPP1, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, WDPCP

SÍNDROME DE SENIOR-LOKEN: 11 genes – Plazos de entrega: 3-4 semanas

CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SCLT1, SDCCAG8, TRAF3IP1, WDR19

SÍNDROME HEMOLÍTICO URÉMICO ATÍPICO: 35 genes – Plazos de entrega: 3-4 semanas

ADAMTS13, C1S, C2, C3, C3AR1, C4BPA, C8A, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CR1, CR2, DGKE, F12, G6PD, INF2, LMNA, MASP1, MMACHC, PHB, PIGA, PLG, THBD, VWF

SÍNDROME NEFRÓTICO: 102 genes – Plazos de entrega: 3-4 semanas

ACTN4, AGXT, ALDH1A2, ALG1, ALMS1, AMN, ANKS6, ANLN, APOE, APOL1, ARHGAP24, ARHGDIA, C3, CD151, CD2AP, CD46, CEP164, CEP83, CFB, CFH, CFHR1, CFHR3, CFI, CLCN5, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, COQ9, CRB2, CTNS, CUBN, CYP11B2, DCDC2, DGKE, DLC1, EMP2, FAN1, FAT1, FN1, GLA, GLIS2, GPC5, INF2, INVS, ITGA3, ITGB4, ITSN1, KANK1, KANK2, KANK4, LAMB2, LCAT, LMNA, LMX1B, LYZ, MAFB, MAGI2, MEFV, MPV17, MYH9, MYO1E, NEIL1, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NUP107, NXF5, OCRL, PAX2, PDSS2, PLCE1, PMM2, PODXL, PTPRO, REN, SCARB2, SMARCAL1, STS, SYNPO, THBD, TMEM67, TNS2, TP53RK, TRPC6, TTC21B, TTR, UMOD, WDR19, WDR4, WDR73, WT1, XPNPEP3, XPO5, ZMPSTE24, ZNF423

SÍNDROMES POLIQUÍSTICOS RENALES: 131 genes – Plazos de entrega: 3-4 semanas

AHI1, ALG5, ALG8, ALG9, ANKS6, ARL13B, ARL3, ARL6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, C8orf37, CC2D2A, CCDC28B, CCND1, CEP120, CEP164, CEP290, CEP41, CEP83, COL4A1, COL4A3, COL4A4, COL4A5, CPLANE1, CPT2, CRB2, CSPP1, DCDC2, DICER1, DYNC2H1, ETFA, ETFB, ETFDH, EVC, EVC2, EYA1, GLIS2, GLIS3, GPC3, HNF1B, HNF4A, IFT140, IFT172, IFT27, IFT43, IFT80, INPP5E, INVS, IQCB1, JAG1, KIF14, KIF7, LRP5, LZTFL1, MET, MKKS, MKS1, MUC1, NEK1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, NRIP1, OFD1, PAX2, PDE6D, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1, PKD2, PKHD1, PMM2, POC1B, PRKCSH, REN, RPGRIP1, RPGRIP1L, SALL1, SDCCAG8, SEC63, SIX5, SUFU, TCTN1, TCTN2, TCTN3, TFAP2A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TSC1, TSC2, TTC21B, TTC8, UMOD, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WT1, XPNPEP3, ZNF423

TUBULOPATÍAS RENALES GLOBAL: 113 genes – Plazos de entrega: 3-4 semanas

ACE, AGT, AGTR1, AHI1, ALG8, ALPL, ANKS6, AP2S1, AQP2, ATP1A1, ATP6V0A4, ATP6V1B1, AVP, AVPR2, BCS1L, BSND, CA2, CASR, CC2D2A, CEP164, CEP41, CEP83, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COQ9, COX10, COX14, COX20, COX6B1, CPT1A, CTNS, CUL3, CYP11B2, CYP24A1, DCDC2, DMP1, EGF, EHHADH, ENPP1, ETFA, ETFB, ETFDH, FAH, FAN1, FASTKD2, FGF23, FOXI1, FXYD2, GALNT3, GATM, GLIS2, GNA11, HNF1B, HNF4A, HSD11B2, IFT122, INVS, JAG1, KCNA1, KCNJ1, KCNJ10, KLHL3, MRPS22, MUC1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, NR3C2, OCRL, PC, PET100, PHEX, PMM2, REN, RRM2B, SCNN1A, SCNN1B, SCNN1G, SCO1, SLC12A1, SLC12A3, SLC1A1, SLC22A12, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC4A1, SLC4A4, SLC5A2, SLC7A7, SLC9A3R1, TACO1, TMEM231, TMEM67, TRAF3IP1, TRPM6, TTC21B, UMOD, VIPAS39, VPS33B, WDR19, WDR35, WNK1, WNK4, XPNPEP3, ZNF423

BUSCADOR POR ENFERMEDAD O GEN