Nefrologia

Nefronoptise

Lista de Genes
AHI1, ANKS3, ANKS6, ARL6
BBS1
CCDC28B, CEP164, CEP290, CEP41, CEP83, CSPP1, CYS1
DCDC2, DNAJC13
FAN1
GLIS2
HIF1AN
IFT140, IFT172, IFT43, IFT81, INTU, INVS, IQCB1
MALL, MAPKBP1, MRE11, MUC1
NEK8, NPHP1, NPHP3, NPHP4
OFD1
PAX2, PAX8, PIBF1, PKD1, PKHD1
RPGRIP1, RPGRIP1L
SDCCAG8
TINAG, TMEM138, TMEM216, TMEM67, TRAF3IP1, TRIP11, TTC21B
WDR19, WDR35
XPNPEP3
ZNF423
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída