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Cholestase, brede differentiaal diagnose (voormalig MET10) HEP02v24.1
81 genen
Genpanel dekking 15X: 99.8 %
81 genen
Genpanel dekking 15X: 99.8 %
HEP02v24.1
19-02-2025
PEX10
PEX14
ABCD3
NOTCH2
GBA
PEX19
TPO
POMC
HADHA
MPV17
PEX13
DGUOK
ABCB11
BCS1L
CYP27A1
UGT1A1
GBE1
NPHP3
CLDN1
USP53
AMACR
PROP1
DCDC2
PEX6
ARG1
PEX3
ABCB4
PEX1
SLC25A13
CFTR
AKR1D1
ASAH1
CYP7B1
PEX2
GLIS3
GALT
TJP2
INVS
BAAT
ALDOB
KIF12
ADK
LIPA
ABCC2
C10orf2
TALDO1
PEX16
STX3
DHCR7
TULP3
SLCO1B3
SLCO1B1
NR1H4
HNF1A
SUCLA2
ATP7B
NPC2
IFT43
VIPAS39
SERPINA1
ZFYVE19
FAH
POLG
UNC45A
VPS33B
HSD3B7
CIRH1A
SHPK
SCO1
PEX12
HNF1B
NPC1
MYO5B
ATP8B1
LSR
SLC27A5
JAG1
AHCY
PEX26
TRMU
MTM1
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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