Nefrologia

Tubulopatias

Lista de Genes
ABCC8, ACE, AGK, AGT, AGTR1, ALDOB, ALG8, AP2S1, AQP2, ATP6V0A4, ATP6V1B1, ATP7B
BCS1L, BSND
CA2, CAD, CASR, CLCN5, CLCNKB, CLDN10, CLDN16, CLDN19, COA8, COG6, COQ2, COQ9, COX10, CPT1A, CTNS, CUL3, CYP11B2, CYP24A1
EHHADH, EIF2AK3, EPG5, ETFA, ETFB, ETFDH
FAH, FBXL4, FN1, FOXI1, FOXRED1, FXYD2
GATA3, GATM, GCK, GEMIN4, GNA11, GNAS, GSTZ1
HBB, HNF1B, HNF4A
INS, IQCE
JAG1
KCNJ1, KCNJ10, KCNJ11, KLHL3, KYNU
LRP2
MAD2L2, MAGED2, MMUT, MPV17, MRPS22, MT-ATP6, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-ND4, MT-ND5, MT-ND6, MT-TF, MT-TL1, MT-TN, MT-TQ, MT-TS1, MT-TS2, MT-TW
NADK2, NARS2, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NOTCH2, NR3C2, NUBPL
OCRL, OSGEP
PC, PDSS2, PDX1, PEX19, PHEX, PHKA2, PHKG2, PMM2
REN, RMND1, RPL10, RRM2B
SCNN1A, SCNN1B, SCNN1G, SCO2, SLC12A1, SLC12A3, SLC22A12, SLC2A2, SLC34A1, SLC34A3, SLC35A1, SLC4A1, SLC4A4, SLC5A2, STAT2, STAT3, SURF1
TACO1, TIMMDC1, TMEM126B, TRMT5, TRPM6, TSEN54
UMOD, UQCC2
VIPAS39, VPS33B
WDR72, WNK1, WNK4
YARS2
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido