Broj gena
504
TAT (radni dani)
25
Metoda
NGS uključujući CNV analizu
Uzorak
Puna krv
Opis
Oko 10% svjetske populacije pogođeno je hroničnim bubrežnim bolestima. Napredak u genetičkim tehnikama pruža nove uvide u dijagnozu, patogenezu i terapiju bubrežnih bolesti. CentoNephro nudi sveobuhvatan alat za skrining najčešćih nasljednih bubrežnih poremećaja, uključujući: Alportov sindrom, panel za renalnu tubularnu acidozu, panel za fokalnu glomerulonefrozu i primarnu hiperoksaluriju, između ostalog. CentoNephro takođe obuhvata grupu poremećaja koji uzrokuju disfunkciju cilija, uključujući Joubertov sindrom, Bardet–Biedlov sindrom, COACH sindrom, primarnu cilijarnu diskineziju, Meckelov sindrom, skeletnu displaziju, situs inversus i heterotaksiju, između ostalih.
Geni
ABCB11, ABCB4, ABCC2, ACE, ACP5, ACTG2, ACTN4, ACVR2B, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, AKR1D1, ALDOB, ALG8, ALG9, ALPL, AMER1, ANKH, ANKS6, ANLN, ANO5, ANOS1, AP2S1, ARHGAP31, ARHGDIA, ARL13B, ARL3, ARL6, ARMC5, ARMC9, ARSL, ATP6V0A4, ATP6V1B1, ATP8B1, ATR, AVPR2, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP1, BMP4, BMPR1B, BNC2, BSND, C2CD3, CA2, CABP4, CANT1, CASP10, CASR, CC2D2A, CCDC28B, CCDC39, CCDC40, CCN6, CCNO, CD2AP, CDKN1C, CENPF, CEP120, CEP152, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP418, CFAP53, CFTR, CHD1L, CHD7, CHRNA3, CHST3, CHSY1, CILK1, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, COL10A1, COL4A1, COL4A3, COL4A4, COL4A5, COL9A3, COMP, COQ2, COQ6, COQ8B, COQ9, CPAP, CPLANE1, CRB1, CRB2, CRELD1, CRTAP, CRX, CSPP1, CTNS, CTU2, CUBN, CUL3, CWC27, CYP7B1, DCDC2, DDR2, DDX59, DGKE, DGUOK, DHCR7, DICER1, DLL3, DMP1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB11, DNAL1, DRC1, DRC2, DSTYK, DUSP6, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DZIP1L, EBP, EIF2AK3, EMP2, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, EYA1, FAH, FAM20C, FAN1, FAS, FASLG, FAT4, FEZF1, FGF17, FGF23, FGF8, FGFR1, FGFR2, FKBP10, FLNB, FLRT3, FN1, FOXP1, FRAS1, FREM1, FREM2, FSHB, FXYD2, GANAB, GATA3, GDF1, GDF5, GFM1, GHR, GLA, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNAS, GNPAT, GNRH1, GNRHR, GPC3, GPC6, GREB1L, GRIP1, GUCY2D, HAAO, HAMP, HESX1, HEXA, HFE, HNF1B, HNF4A, HOXA13, HOXD13, HPSE2, HS6ST1, HSD11B2, HSD3B7, HSPG2, HYDIN, HYLS1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, IHH, IL17RD, IMPDH1, INF2, INPP5E, INPPL1, INVS, IQCB1, ITGA3, ITGA8, JAG1, KANK2, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KDM6A, KIAA0586, KIF14, KIF22, KIF7, KISS1, KISS1R, KLHL3, KMT2D, KYNU, LAGE3, LAMB2, LBR, LCA5, LCAT, LCT, LEP, LEPR, LHB, LHX3, LHX4, LIFR, LMF1, LMX1B, LRAT, LRIG2, LRP4, LRP5, LZTFL1, MAFB, MAGI2, MAPKBP1, MATN3, MCEE, MERTK, MESP2, MGP, MKKS, MKS1, MMAA, MMAB, MMADHC, MMP13, MMP21, MMP9, MMUT, MPV17, MUC1, MYH9, MYO1E, MYO5B, MYO7A, MYOCD, NADSYN1, NBAS, NEK1, NEK8, NEUROG3, NIPBL, NKX2-5, NKX3-2, NME8, NMNAT1, NODAL, NOG, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR0B2, NR1H4, NR3C2, NSDHL, NSMF, NUP107, NUP93, OBSL1, OCRL, ODAD1, ODAD2, ODAD3, OFD1, OSGEP, OTX2, P3H1, PAPSS2, PAX2, PBX1, PCSK1, PDE4D, PDE6D, PDSS2, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PHEX, PHF6, PIBF1, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLOD2, PMM2, PNPLA6, POLG, POLR3B, POMC, POU1F1, PPARG, PPIB, PRKAR1A, PRKCSH, PROK2, PROKR2, PROM1, PROP1, PRPH2, PTH1R, PTHLH, PTPRO, RBBP8, RD3, RDH12, RDH5, REN, RET, RHO, RLBP1, RMND1, RNF216, ROBO1, ROBO2, ROR2, RPE65, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SBDS, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SEMA3A, SERPINA1, SERPINF1, SERPINH1, SGPL1, SH3PXD2B, SIX1, SIX2, SIX5, SKIC3, SLC12A1, SLC12A3, SLC25A13, SLC25A15, SLC26A2, SLC26A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC4A1, SLC4A4, SLCO1B1, SLCO1B3, SLIT2, SMARCAL1, SMPD1, SOX10, SOX11, SOX17, SOX2, SOX3, SOX9, SPAG1, SPATA7, SPINT2, SPRY4, STRA6, SUFU, TAC3, TACR3, TBC1D1, TBX15, TBX18, TBX3, TBX5, TCTN1, TCTN2, TCTN3, TFR2, TJP2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNFRSF11B, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRIM32, TRIP11, TRMU, TRPC6, TRPS1, TRPV4, TSC1, TSC2, TTC21B, TTC8, TULP1, TXNDC15, UGT1A1, UMOD, UPK3A, VHL, VIPAS39, VPS33B, WDR11, WDR19, WDR35, WDR4, WDR73, WNK1, WNK4, WNT4, WNT5A, WNT7A, WT1, XPNPEP3, XYLT1, ZIC3, ZMYND10, ZNF423