Colestase neonatal

Lista de Genes
ABCA13, ABCB11, ABCB4, ABCC2, ABCD3, ABCG8, ACAD9, ACADVL, AGL, AKR1D1, ALDOA, ALDOB, ALG12, ALG3, ALG8, AMACR, ARG1, ASAH1, ATP6AP1, ATP7B, ATP8B1
B4GALT1, BAAT, BCS1L, BLVRA, BMP2
CC2D2A, CCDC115, CDAN1, CFTR, CLDN1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CYP1B1, CYP27A1, CYP7A1, CYP7B1
DCDC2, DGUOK
EARS2
GALT, GATA6, GBA, GBE1, GFM1, GPBAR1, GRTP1
HNF1A, HNF1B, HSD3B7
IARS1, IL12RB1, INVS, IRF5
JAG1
KCNN3, KIF12, KRT18, KRT8
LARS1, LBR, LIPA, LSR
MGAT2, MKS1, MOGS, MPI, MPV17, MTFMT, MYO5B
NBAS, NEK8, NOTCH2, NPC1, NPC2, NPHP3, NR1H4
PC, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM1, PHKA2, PHKG2, PKHD1, PMM2, POLG, POLG2, PPM1F
RFX6, RPGRIP1L, RRM2B
SC5D, SCYL1, SERPINA1, SLC25A13, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SLC4A2, SLCO1B1, SLCO1B3, SMPD1
TBX19, TCF4, TJP2, TMEM165, TMEM199, TMEM216, TMEM67, TRMU
UBR1, UGT1A1, USP53
VIPAS39, VPS33B
WDR83OS
ZEB2, ZFYVE19
90 dias
2mL de sangue em tubo com EDTA