Indikation: Nyresygdom, polycystisk nyresygdom, cystinuri, cystenyre, Alport, PKD, FSGS, nefronoftise, Bartter, fokal segmental glomerulosclerose, proteinuri, CAKUT, nephronophthisis, ciliopati, Joubert, Alström, Bardet-Biedl, nefrocalcinose, hyperoxaluri, hypocalciuri, osteopetrose, hypercalcæmi, nyreagenesi, Kallman, renal tubulær acidose, nefrolithiasis, hyperurikæmi,
Exomsekventering med analyse og vurdering af varianter i følgende gener:
ACE, ACTA2, ACTG2, ACTN4, ACVR2B, ADCY10, ADGRV1, AGK, AGT, AGTR1, AGXT, AHI1, AIPL1, ALG13, ALMS1, AMN, ANKS6, ANLN, ANOS1, AP2S1, APOL1, APRT, ARHGAP24, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC4, ARMC9, ATP6V0A4, ATP6V1B1, ATXN10, AVIL, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCRP, BICC1, BMP4, BMP7, BNC2, BSND, C2CD3, C3, C8ORF37, CA2, CASR, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CD2AP, CD46, CDH23, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP410, CFAP43, CFAP44, CFAP53, CFB, CFC1, CFH, CFI, CFTR, CHD1L, CHD7, CHRM3, CHRNA3, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CLRN1, COL4A1, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, COX10, CPE, CPLANE1, CRB1, CRB2, CRELD1, CRX, CSPP1, CTNS, CTU2, CUBN, CYP24A1, DACT1, DCDC2, DDX59, DGKE, DHCR7, DLG3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAjB11, DNAJB13, DNAL1, DNHD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DRC1, DSTYK, DYNC2H1, DYNC2LI1, DZIP1L, DAAM2, EMP2, EVC, EVC2, EXOC3L2, EXOC8, EYA1, FAM20A, FAN1, FGF20, FGF23, FN1, FOXC1, FOXC2, FOXD2, FOXH1, FOXI1, FRAS1, FREM1, FREM2, G6PC, GANAB, GAS8, GATA3, GDF1, GDNF, GLI2, GLI3, GLIS2, GNA11, GPATCH8, GPC3, GREB1L, GREM1, GRHPR, GRIP1, GUCY2D, HCN3, HNF1B, HNF4A, HNRNPK, HOGA1, HOXA13, HPRT1, HPSE2, HYDIN, HYLS1, HAAO, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IMPDH1, INF2, INPP5E, INS, INVS, IQCB1, ISCA-37432-Loss, ISL1, ITGA3, ITGA8, JAG1, KANK2, KCNJ1, KCNJ13, KDM6A, KIF14, KIF7, KIT, KIAA0556, KIAA0586, KIAA0753, KMT2D, KYNU, LAMB2, LBR, LCA5, LDHD, LEFTY2, LIFR, LMX1B, LRAT, LRIG2, LRP4, LRP5, LRRC6, LZTFL1, MAFB, MAGED2, MAGI2, MAPKBP1, MCIDAS, MKKS, MKS1, MUC1, MYH11, MYH9, MYO1E, MYO7A, MYOCD, NADSYN1, NEK1, NEK8, NIPBL, NKX2-5, NME8, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OCRL, OFD1, PAX2, PBX1, PCARE, PCDH15, PDE6D, PHEX, PIBF1, PKD1, PKD2, PKHD1, PLCE1, PMM2, PNPLA6, POC1A, POC1B, PRKCSH, PTPRO, RD3, RDH12, REN, RET, ROBO2, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH4A, RSPH9, SALL1, SALL4, SARS2, SBDS, SCAPER, SCARB2, SCLT1, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SGPL1, SHH, SIX1, SIX5, SLC12A1, SLC12A3, SLC17A1, SLC22A11, SLC22A12, SLC22A13, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC4A1, SLC6A19, SLC6A20, SLC7A9, SLC9A3, SLC9A3R1, SLIT2, SMARCA4, SMARCAL1, SOX17, SPAG1, SPATA7, SPRY1, STRA6, STRADA, TBC1D1, TBC1D32, TBC1D8B, TBX18, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2A, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNXB, TOPORS, TRAF3IP1, TRAP1, TRAP1, TRIM32, TRIM32, TRPC6, TRPM6, TSC1, TSC2, TSHZ3, TTBK2, TTC21B, TTC8, TULP1, UMOD, UPK2, UPK3A, USH1C, USH1G, USH2A, USP9X, VDR, VHL, VIPAS39, VPS13B, VPS33B, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR63, WDR72, WDR73, WHRN, WNT5A, WT1, XDH, XPNPEP3, ZIC3, ZMYM2, ZMYND10, ZNF365, ZNF423, ZSWIM6.