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NGS Metabole aandoeningen

Panel naam NGS Metabole aandoeningen
Panel methode WES-based NGS
Panel versie ** AUMC_Metaboolv1
Panel kwaliteit *** C
Core-NL Geen core-NL genen inbegrepen
CNV analyse Nee
Locatie Locatie AMC
Genen (723) Kwaliteit % coverage >30 % coverage >20 Core-NL Notitie
AASS C
ABAT C
ABCC8 C
ABCD1 C
ABCD2 C
ABCD3 C
ABCD4 C
ABCG5 C
ABCG8 C
ABHD12 C
ABHD5 C
ACACA C
ACAD8 C
ACAD9 C
ACADM C
ACADS C
ACADSB C
ACADVL C
ACAT1 C
ACAT2 C
ACBD5 C
ACO2 C
ACOX1 C
ACOX2 C
ACSF3 C
ACSL4 C
ACY1 C
ADA C
ADCK5 C
ADCY5 C
ADK C
ADSL C
AGA C
AGK C
AGL C
AGPAT2 C
AGPS C
AGXT C
AHCY C
AK1 C
AK2 C
AKR1C1 C
AKR1D1 C
ALAD C
ALAS2 C
ALDH18A1 C
ALDH1A3 C
ALDH2 C
ALDH3A2 C
ALDH4A1 C
ALDH5A1 C
ALDH6A1 C
ALDH7A1 C
ALDOA C
ALDOB C
ALG1 C
ALG10 C
ALG11 C
ALG12 C
ALG13 C
ALG14 C
ALG2 C
ALG3 C
ALG6 C
ALG8 C
ALG9 C
ALOX12B C
ALPL C
AMACR C
AMN C
AMPD1 C
AMPD3 C
AMT C
AP1S1 C
AP3B2 C
APOA5 C
APOC2 C
APRT C
ARG1 C
ARSA C
ARSB C
ASAH1 C
ASL C
ASNS C
ASPA C
ASS1 C
ATIC C
ATP1A1 C
ATP6AP1 C
ATP6AP2 C
ATP6V0A2 C
ATP6V1A C
ATP6V1E1 C
ATP7A C
ATP7B C
ATP8B1 C
AUH C
B3GALNT1 C
B3GALNT2 C
B3GALT6 C
B3GAT3 C
B3GLCT C
B4GALT1 C
B4GALT7 C
B4GAT1 C
BAAT C
BCAT1 C
BCAT2 C
BCKDHA C
BCKDHB C
BCKDK C
BCO1 C
BLVRA C
BMP2 C
BPGM C
BPNT2 C
BSCL2 C
BTD C
C1GALT1C1 C
C2orf69 C
CA5A C
CAD C
CANT1 C
CAT C
CAV1 C
CAVIN1 C
CBLIF C
CBS C
CCDC115 C
CD320 C
CEL C
CERKL C
CERS3 C
CFTR C
CHIT1 C
CHKB C
CHST14 C
CHST3 C
CHST6 C
CHSY1 C
CIDEC C
CLCN7 C
CLN3 C
CLN5 C
CLN6 C
CLN8 C
CLPB C
CMAS C
COG1 C
COG2 C
COG4 C
COG5 C
COG6 C
COG7 C
COG8 C
COMT C
COQ2 C
COQ4 C
COQ5 C
COQ6 C
COQ7 C
COQ8A C
COQ8B C
COQ9 C
CP C
CPOX C
CPS1 C
CPT1A C
CPT2 C
CRAT C
CRPPA C
CTH C
CTNS C
CTSA C
CTSC C
CTSD C
CTSK C
CUBN C
CYB561 C
CYB5R3 C
CYP11A1 C
CYP11B1 C
CYP11B2 C
CYP17A1 C
CYP19A1 C
CYP1B1 C
CYP21A2 C
CYP27A1 C
CYP27B1 C
CYP2R1 C
CYP2U1 C
CYP7B1 C
D2HGDH C
DAO C
DBH C
DBT C
DCXR C
DDC C
DDHD1 C
DDOST C
DEGS1 C
DGAT1 C
DGKE C
DGUOK C
DHCR24 C
DHCR7 C
DHDDS C
DHFR C
DHODH C
DLD C
DMGDH C
DNAJC12 C
DNAJC19 C
DNM1L C
DNM2 C
DNMT1 C
DNMT3B C
DOLK C
DPAGT1 C
DPM1 C
DPM2 C
DPM3 C
DPYD C
DPYS C
DTYMK C
EBP C
ECHS1 C
EDEM3 C
ELOVL1 C
ELOVL4 C
ENO3 C
EOGT C
EPG5 C
EPHX1 C
EPHX2 C
ETFA C
ETFB C
ETFDH C
ETHE1 C
EXT1 C
EXT2 C
EYA1 C
FA2H C
FAH C
FAR1 C
FBN1 C
FBP1 C
FBP2 C
FCSK C
FDFT1 C
FECH C
FH C
FKRP C
FKTN C
FLAD1 C
FMO3 C
FOLR1 C
FTCD C
FUCA1 C
FUT2 C
FUT6 C
FUT8 C
G6PC C
G6PC3 C
G6PD C
GAA C
GAD1 C
GALC C
GALE C
GALK1 C
GALM C
GALNS C
GALNT2 C
GALNT3 C
GALT C
GAMT C
GANAB C
GATM C
GBA C
GBA2 C
GBE1 C
GCDH C
GCH1 C
GCK C
GCLC C
GCLM C
GCSH C
GFPT1 C
GGPS1 C
GK C
GLA C
GLB1 C
GLDC C
GLRA1 C
GLRX5 C
GLS C
GLUD1 C
GLUL C
GLYCTK C
GM2A C
GMPPA C
GMPPB C
GMPS C
GNE C
GNMT C
GNPAT C
GNPTAB C
GNPTG C
GNS C
GOT1 C
GOT2 C
GPD1 C
GPD1L C
GPHN C
GPI C
GPIHBP1 C
GPT2 C
GPX1 C
GRHPR C
GSS C
GUSB C
GYG1 C
GYS1 C
GYS2 C
H6PD C
HADH C
HADHA C
HADHB C
HAGH C
HEXA C
HEXB C
HFE C
HGD C
HGSNAT C
HIBADH C
HIBCH C
HK1 C
HLCS C
HMBS C
HMGCL C
HMGCS2 C
HMOX1 C
HNF1A C
HNF4A C
HOGA1 C
HPD C
HPDL C
HPRT1 C
HS6ST1 C
HSD11B1 C
HSD11B2 C
HSD17B10 C
HSD17B3 C
HSD17B4 C
HSD3B2 C
HSD3B7 C
HTRA2 C
HYAL1 C
IDH2 C
IDH3B C
IDI1 C
IDS C
IDUA C
IMPDH1 C
INPP5E C
INPPL1 C
INSR C
IREB2 C
ITCH C
ITPA C
IVD C
KCNA2 C
KCNJ11 C
KMT2A C
KMT2D C
L2HGDH C
LAMP2 C
LARGE1 C
LCAT C
LCT C
LDHA C
LDHB C
LFNG C
LIAS C
LIPA C
LIPC C
LIPE C
LIPT1 C
LIPT2 C
LMBRD1 C
LMF1 C
LMNA C
LMNB2 C
LPIN1 C
LPIN2 C
LPL C
LRAT C
LTC4S C
LYST C
MAN1B1 C
MAN2B1 C
MAN2B2 C
MANBA C
MAOA C
MAT1A C
MBOAT7 C
MCCC1 C
MCCC2 C
MCEE C
MCOLN1 C
MDH1 C
MFSD2A C
MFSD8 C
MGAT2 C
MINPP1 C
MLYCD C
MMAA C
MMAB C
MMACHC C
MMADHC C
MMUT C
MOCOS C
MOCS1 C
MOCS2 C
MOGS C
MORC2 C
MPDU1 C
MPI C
MRPL44 C
MRPS36 C
MSMO1 C
MTHFD1 C
MTHFR C
MTM1 C
MTMR2 C
MTR C
MTRR C
MVK C
NADK2 C
NAGA C
NAGLU C
NAGS C
NANS C
NAXD C
NAXE C
NBAS C
NEU1 C
NGLY1 C
NMNAT1 C
NNT C
NPC1 C
NPC2 C
NPL C
NSD1 C
NSDHL C
NT5C3A C
NT5E C
NUS1 C
OAT C
OCRL C
ODC1 C
OGDH C
OGDHL C
OPA3 C
OPLAH C
OTC C
OXCT1 C
PAH C
PANK2 C
PC C
PCBD1 C
PCCA C
PCCB C
PCK1 C
PCK2 C
PCYT1A C
PCYT2 C
PDSS1 C
PDSS2 C
PEPD C
PEX1 C
PEX10 C
PEX11B C
PEX12 C
PEX13 C
PEX14 C
PEX16 C
PEX19 C
PEX2 C
PEX26 C
PEX3 C
PEX5 C
PEX6 C
PEX7 C
PFKM C
PGAM2 C
PGAP1 C
PGAP2 C
PGAP3 C
PGK1 C
PGM1 C
PGM2L1 C
PGM3 C
PHGDH C
PHKA1 C
PHKA2 C
PHKB C
PHKG1 C
PHKG2 C
PHYH C
PI4K2A C
PIGA C
PIGB C
PIGC C
PIGL C
PIGM C
PIGN C
PIGO C
PIGP C
PIGQ C
PIGT C
PIGV C
PIGW C
PIGY C
PIK3CA C
PIK3R1 C
PIK3R2 C
PIK3R5 C
PIKFYVE C
PIP5K1C C
PKLR C
PLA2G5 C
PLA2G6 C
PLA2G7 C
PLCB1 C
PLCB4 C
PLCD1 C
PLCE1 C
PLCG2 C
PLIN1 C
PLOD1 C
PLOD2 C
PLOD3 C
PLPBP C
PMM2 C
PNLIP C
PNMT C
PNP C
PNPLA2 C
PNPLA6 C
PNPO C
POFUT1 C
POGLUT1 C
POLD1 C
POLR3A C
POLR3B C
POMGNT1 C
POMGNT2 C
POMK C
POMT1 C
POMT2 C
PPARG C
PPCS C
PPM1K C
PPOX C
PPT1 C
PRKAG2 C
PRKCSH C
PRODH C
PRPS1 C
PSAP C
PSAT1 C
PSPH C
PTEN C
PTGIS C
PTPN11 C
PTS C
PUS3 C
PYCR1 C
PYCR2 C
PYGL C
PYGM C
QDPR C
RBCK1 C
RDH12 C
RDH5 C
RFT1 C
RINT1 C
RPE65 C
RPIA C
RPN2 C
RXYLT1 C
SARDH C
SAT1 C
SC5D C
SCARB2 C
SCP2 C
SCYL1 C
SEC23B C
SELENBP1 C
SEPSECS C
SERAC1 C
SGSH C
SI C
SLC10A7 C
SLC12A1 C
SLC13A3 C
SLC16A1 C
SLC17A5 C
SLC18A2 C
SLC22A12 C
SLC22A5 C
SLC25A1 C
SLC25A13 C
SLC25A15 C
SLC25A19 C
SLC25A20 C
SLC25A21 C
SLC25A32 C
SLC25A38 C
SLC25A42 C
SLC28A1 C
SLC2A1 C
SLC2A2 C
SLC2A9 C
SLC30A10 C
SLC33A1 C
SLC35A1 C
SLC35A2 C
SLC35A3 C
SLC35C1 C
SLC35D1 C
SLC37A4 C
SLC39A14 C
SLC39A4 C
SLC39A8 C
SLC3A1 C
SLC44A1 C
SLC46A1 C
SLC52A1 C
SLC52A2 C
SLC52A3 C
SLC5A1 C
SLC5A2 C
SLC6A19 C
SLC6A5 C
SLC6A8 C
SLC6A9 C
SLC7A7 C
SLC7A9 C
SLCO1B1 C
SLCO1B3 C
SMPD1 C
SMS C
SNX14 C
SOD1 C
SOD2 C
SPR C
SPTLC1 C
SPTLC2 C
SQOR C
SRD5A2 C
SRD5A3 C
SSR4 C
ST3GAL3 C
ST3GAL5 C
STAR C
STS C
STT3A C
STT3B C
STX5 C
SUCLA2 C
SUCLG1 C
SUCLG2 C
SUGCT C
SUMF1 C
SUOX C
TALDO1 C
TANGO2 C
TAT C
TAZ C
TBXAS1 C
TCIRG1 C
TCN2 C
TECR C
TH C
TIMM50 C
TK2 C
TKFC C
TKT C
TMEM106B C
TMEM165 C
TMEM199 C
TMEM70 C
TMLHE C
TPI1 C
TPK1 C
TPMT C
TPP1 C
TRAK1 C
TRAPPC11 C
TRAPPC2L C
TREH C
TUSC3 C
TYMP C
TYMS C
TYR C
TYRP1 C
UFM1 C
UGT1A1 C
UMPS C
UPB1 C
UROC1 C
UROD C
UROS C
VMA21 C
VPS13B C
VPS33A C
XDH C
XYLT1 C
XYLT2 C
ZBTB11 C
ZMPSTE24 C
Indicatie(s)
Behandelbare metabole neurodegeneratieve aandoeningen

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C


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