Renal-NGS

Doenças renais e do trato urinário - sequenciamento - 298 genes

Painel ampliado para a investigação de genes previamente associados a anomalias congênitas de rins e do trato urinário (CAKUT), nefrolitíase/nefrocalcinose, acidose tubular renal, hematúria familial, síndrome de Alport, glomerulopatias, síndromes hemolítico-urêmicas, entre outras.

ACE, ACTG2, ACTN4, ADAMTS9, AGT, AGTR1, AGXT, AHI1, ALG5, ALG8, ALG9, ALMS1, AMN, ANKS6, ANLN,, ANOS1, AP2S1, APOA1, APOA2, APOC2, APOE, APOL1, APRT, AQP2, ARHGDIA, ARL13B, ARL6, ARMC9, ATP1A1, ATP6V0A4, ATP6V1B1, AVPR2, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BNC2, BSND, C3, C5orf42, CA2, CASR, CC2D2A, CCNQ, CD151, CD2AP. CD46, CENPF, CEP104, CEP164, CEP290, CEP41, CEP55, CEP83, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CHD7, CHRM3, CHRNA3, CLCN5, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CSPP1, CTNS, CTU2, CUBN, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP24A1, DAAM2, DCDC2, DDX59, DGKE, DHCR7, DLC1, DLG5, DNAJB11, DSTYK, DYNC2H1, DZIP1L, EHHADH, EYA1, FAH, FAM20A, FAN1, FAT1, FGA, FLCN, FN1, FRAS1, FREM1, FREM2, GANAB, GATA3, GATM, GLA, GLI3, GLIS2, GNA11, GON7, GPC3, GREB1L, GRHPR, GRIP1, GSN, HAAO, HNF1B, HNF4A, HOGA1, HOXA13, HPRT1, HPSE2, HSD11B2, HYLS1, ICK, IFT122, IFT140, IFT172, IFT27, IFT43, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITSN1, JAG1, KCNJ1, KCNJ10, KCNJ16, KCNJ5, KDM6A, KIAA0586, KIAA0753, KIF7, KLHL3, KMT2D, KYNU, LAGE3, LAMB2, LCAT, LIFR, LMX1B, LRIG2, LRP4, LYZ, LZTFL1, MAGED2, MAGI2, MAPKBP1, MKKS, MKS1, MMACHC, MOCOS, MT-TF, MUC1, MYH9, MYO1E, MYOCD, NADSYN1, NEK8, NIPBL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C1, NR3C2, NUP107, NUP133, NUP85, NUP93, OCRL, OFD1, OSGEP, PAX2, PBX1, PDSS2, PHEX, PKD1, PKD2, PKHD1, PLCE1, PLVAP, PMM2, PODXL, PRKCSH, REN, RET, RMND1, ROBO2, ROR2, RPGRIP1L, RRAGD, RRM2B, SALL1, SARS2, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SGPL1, SIX5, SLC12A1, SLC12A3, SLC22A12, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC5A2, SLC7A9, SLC9A3R1, SMARCAL1, STRA6, STRADA, TBC1D1, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRIM8, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, TTR, TULP3, TXNDC15, UMOD, VHL, VIPAS39, VPS33B, VTN, WBP11, WDPCP, WDR19, WDR35, WDR60, WDR72, WDR73, WNK1, WNK4, WT1, XDH, XPNPEP3, YRDC, ZIC3, ZMYM2, ZNF423

40503801

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