Gen-Panel
Cholestase, umfassende Diagnostik: ID367.00, 81 Gene
ABCB4,
ABCB11,
ABCC2,
ABCD3,
ABCG5,
ABCG8,
ACOX2,
ADK,
AKR1D1,
ALDOB,
AMACR,
ATP7B,
ATP8B1,
BAAT,
BCS1L,
CFTR,
CLDN1,
COG7,
CYP7B1,
CYP27A1,
DCDC2,
DGUOK,
FAH,
FOCAD,
GALE,
GALM,
GALT,
GBA1,
HADHA,
HNF1B,
HSD3B7,
IFT56,
JAG1,
KIF12,
LARS1,
LIPA,
LSR,
MPI,
MPV17,
MVK,
MYO5B,
NBAS,
NOTCH2,
NPC1,
NPC2,
NR1H4,
PEX1,
PEX2,
PEX3,
PEX5,
PEX6,
PEX10,
PEX12,
PEX13,
PEX14,
PEX16,
PEX19,
PEX26,
PKHD1,
POLG,
RINT1,
SCYL1,
SEMA7A,
SERPINA1,
SLC25A13,
SLC51A,
SLC51B,
SMPD1,
TALDO1,
TJP2,
TRMU,
TULP3,
UGT1A1,
UNC45A,
USP53,
VIPAS39,
VMA22,
VPS33B,
VPS50,
YARS1,
ZFYVE19
