Vi tilbyr en rekke mer målrettede genpaneler for undergrupper av metabolske sykdommer, se disse først. Ved moderat til alvorlig psykisk utviklingshemming og/eller multiple misdannelser bør genpanel for utviklingsavvik (NGS-Utviklingsavvik-TRIO) vurderes fremfor genpanel for metabolsk sykdom.
Analysen kan rekvireres som ledd i utredning av medfødt metabolsk sykdom. De fleste medfødte metabolske sykdommer er autosomalt recessive, men enhver arvegang, også mitokondriell (omfattes ikke av analysen), er mulig. Medfødt metabolsk sykdom kan debutere i alle aldre og gi svært ulike symptombilder. Symptomer, familiehistorie og funn (avvik ved biokjemisk screening for medfødt metabolsk sykdom) vil kunne indikere aktuelle sykdomsgrupper som bør prioriteres ved tolkning av genvarianter.
For informasjon om hvilke gener som inngår i tidligere, utgåtte versjoner av panelet, vises det til genliste på Genetikkportalen (www.genetikkportalen.no).
Metabolske sykdommer (TRIO) versjon 03
A4GALT |
ABAT |
ABCA1 |
ABCB11 |
ABCB4 |
ABCB6 |
ABCB7 |
ABCC2 |
ABCC6 |
ABCC8 |
ABCD1 |
ABCD3 |
ABCD4 |
ABCG5 |
ABCG8 |
ABHD12 |
ABHD5 |
ACACA |
ACACB |
ACAD8 |
ACAD9 |
ACADL |
ACADM |
ACADS |
ACADSB |
ACADVL |
ACAT1 |
ACAT2 |
ACBD5 |
ACER3 |
ACMSD |
ACO2 |
ACOX1 |
ACOX2 |
ACSF3 |
ACSL4 |
ACY1 |
ADA |
ADAR |
ADK |
ADSL |
AFG3L2 |
AGA |
AGK |
AGL |
AGPAT2 |
AGPS |
AGXT |
AGXT2 |
AHCY |
AICDA |
AIFM1 |
AK1 |
AK2 |
AK7 |
AKR1D1 |
AKT2 |
ALAD |
ALAS2 |
ALDH18A1 |
ALDH1A3 |
ALDH3A2 |
ALDH4A1 |
ALDH5A1 |
ALDH6A1 |
ALDH7A1 |
ALDOA |
ALDOB |
ALG1 |
ALG11 |
ALG12 |
ALG13 |
ALG14 |
ALG2 |
ALG3 |
ALG6 |
ALG8 |
ALG9 |
ALPI |
ALPL |
AMACR |
AMN |
AMPD1 |
AMPD2 |
AMPD3 |
AMT |
ANGPTL3 |
ANO10 |
ANTXR2 |
AP1S1 |
AP5Z1 |
APOA1 |
APOA5 |
APOB |
APOC2 |
APOC3 |
APOE |
APPL1 |
APRT |
APTX |
AQP7 |
AR |
ARG1 |
ARSA |
ARSB |
ASAH1 |
ASL |
ASNS |
ASPA |
ASS1 |
ATAD1 |
ATAD3A |
ATG5 |
ATIC |
ATP13A2 |
ATP5F1A |
ATP5F1D |
ATP5F1E |
ATP5MK |
ATP6AP1 |
ATP6AP2 |
ATP6V0A2 |
ATP6V1A |
ATP6V1E1 |
ATP7A |
ATP7B |
ATP8A2 |
ATP8B1 |
ATPAF2 |
AUH |
B3GALNT2 |
B3GALT6 |
B3GAT3 |
B3GLCT |
B4GALNT1 |
B4GALT1 |
B4GALT7 |
B4GAT1 |
BAG3 |
BBOX1 |
BCAT2 |
BCKDHA |
BCKDHB |
BCKDK |
BCO1 |
BCS1L |
BLK |
BLVRA |
BOLA3 |
BPNT2 |
BTD |
BAAT |
C19orf12 |
C1GALT1C1 |
C1QBP |
CA5A |
CACNA1A |
CAD |
CANT1 |
CARS2 |
CAT |
CBLIF |
CBS |
CCDC115 |
CCDC88C |
CD320 |
CEP89 |
CERS1 |
CERS2 |
CERS3 |
CERT1 |
CETP |
CHCHD10 |
CHKB |
CHST11 |
CHST14 |
CHST3 |
CHST6 |
CHSY1 |
CISD2 |
CLDN10 |
CLDN16 |
CLDN19 |
CLN3 |
CLN5 |
CLN6 |
CLN8 |
CLPB |
CLPP |
CLPX |
CMPK2 |
CNKSR2 |
CNNM2 |
COA3 |
COA5 |
COA6 |
COA7 |
COA8 |
COASY |
COG1 |
COG2 |
COG4 |
COG5 |
COG6 |
COG7 |
COG8 |
COQ2 |
COQ4 |
COQ5 |
COQ6 |
COQ7 |
COQ8A |
COQ8B |
COQ9 |
COX10 |
COX14 |
COX15 |
COX20 |
COX4I2 |
COX6A1 |
COX6B1 |
COX7B |
COX8A |
CP |
CPOX |
CPS1 |
CPT1A |
CPT1C |
CPT2 |
CRAT |
CRPPA |
CSGALNACT1 |
CTH |
CTNS |
CTSA |
CTSC |
CTSD |
CTSF |
CTSK |
CUBN |
CWF19L1 |
CYB5A |
CYB5R3 |
CYC1 |
CYCS |
CYP11A1 |
CYP11B1 |
CYP11B2 |
CYP17A1 |
CYP19A1 |
CYP21A2 |
CYP24A1 |
CYP26B1 |
CYP27A1 |
CYP27B1 |
CYP2R1 |
CYP2U1 |
CYP4F22 |
CYP7A1 |
CYP7B1 |
D2HGDH |
DARS1 |
DARS2 |
DBH |
DBT |
DCAF17 |
DCXR |
DDC |
DDHD1 |
DDHD2 |
DDOST |
DES |
DGAT1 |
DGKE |
DGUOK |
DHCR24 |
DHCR7 |
DHDDS |
DHFR |
DHODH |
DHTKD1 |
DIAPH1 |
DLAT |
DLD |
DMGDH |
DNA2 |
DNAJC12 |
DNAJC19 |
DNAJC3 |
DNAJC5 |
DNM1L |
DOLK |
DPAGT1 |
DPM1 |
DPM2 |
DPM3 |
DPYD |
DPYS |
DSE |
DUOX2 |
DUOXA2 |
E4F1 |
EARS2 |
EBP |
ECHS1 |
EGF |
EHHADH |
EIF2B1 |
EIF2B2 |
EIF2B3 |
EIF2B4 |
EIF2B5 |
ELAC2 |
ELOVL1 |
ELOVL4 |
ELOVL5 |
ENO3 |
ENPP1 |
EOGT |
EPG5 |
EPHX1 |
EPM2A |
ERCC6 |
ESR1 |
ETFA |
ETFB |
ETFDH |
ETHE1 |
EXOSC3 |
EXOSC8 |
EXT1 |
EXT2 |
EXTL3 |
FA2H |
FAH |
FAR1 |
FARS2 |
FASTKD2 |
FBP1 |
FBXL4 |
FDFT1 |
FDPS |
FDX2 |
FDXR |
FECH |
FH |
FIG4 |
FKRP |
FKTN |
FLAD1 |
FMO3 |
FOLR1 |
FOXE1 |
FOXRED1 |
FTCD |
FTH1 |
FTL |
FUCA1 |
FUT8 |
FXN |
FXYD2 |
G6PC1 |
G6PC3 |
G6PD |
GABBR2 |
GABRA1 |
GABRA6 |
GABRB1 |
GABRB2 |
GABRB3 |
GABRD |
GABRG2 |
GAD1 |
GALC |
GALE |
GALK1 |
GALNS |
GALNT3 |
GALT |
GAMT |
GANAB |
GARS1 |
GATA1 |
GATB |
GATC |
GATM |
GBA1 |
GBA2 |
GBE1 |
GCDH |
GCH1 |
GCK |
GCLC |
GCSH |
GDAP1 |
GFER |
GFM1 |
GFM2 |
GFPT1 |
GGCX |
GGPS1 |
GGT1 |
GK |
GLA |
GLB1 |
GLDC |
GLRA1 |
GLRB |
GLRX5 |
GLS |
GLUD1 |
GLUL |
GLYCTK |
GM2A |
GMPPA |
GMPPB |
GNE |
GNMT |
GNPAT |
GNPTAB |
GNPTG |
GNS |
GOT2 |
GPD1 |
GPHN |
GPI |
GPIHBP1 |
GPR161 |
GPX4 |
GPAA1 |
GRHPR |
GRIA3 |
GRIA4 |
GRIN1 |
GRIN2A |
GRIN2B |
GRIN2D |
GRM1 |
GRM6 |
GRN |
GSR |
GSS |
GSTZ1 |
GTPBP3 |
GUSB |
GYG1 |
GYG2 |
GYS1 |
GYS2 |
GAA |
H6PD |
HACD1 |
HADH |
HADHA |
HADHB |
HAL |
HAMP |
HAO1 |
HARS1 |
HARS2 |
HCCS |
HCFC1 |
HEPACAM |
HEXA |
HEXB |
HFE |
HGD |
HGSNAT |
HHAT |
HIBADH |
HIBCH |
HJV |
HK1 |
HLCS |
HMBS |
HMGCL |
HMGCS2 |
HMOX1 |
HNF1A |
HNF1B |
HNF4A |
HOGA1 |
HPD |
HPGD |
HPRT1 |
HSD11B1 |
HSD11B2 |
HSD17B10 |
HSD17B3 |
HSD17B4 |
HSD3B2 |
HSD3B7 |
HSPA9 |
HSPD1 |
HTRA2 |
HYAL1 |
HAAO |
IARS2 |
IBA57 |
IDH2 |
IDH3B |
IDS |
IDUA |
IFIH1 |
IMPDH1 |
INPP5E |
INPPL1 |
INS |
INSR |
ISCA1 |
ISCA2 |
ISCU |
ITPA |
ITPR1 |
ITPR2 |
IVD |
IYD |
JAG1 |
JAGN1 |
KARS1 |
KCNA1 |
KCNJ10 |
KCNJ11 |
KCTD7 |
KHK |
KLF11 |
KMO |
KYNU |
L2HGDH |
LAMA1 |
LAMP2 |
LARGE1 |
LARS2 |
LBR |
LCAT |
LCT |
LDB3 |
LDHA |
LDHB |
LDLR |
LDLRAP1 |
LFNG |
LHX4 |
LIAS |
LIPA |
LIPC |
LIPE |
LIPT1 |
LIPT2 |
LMBRD1 |
LMF1 |
LMNA |
LONP1 |
LPIN1 |
LPIN2 |
LPL |
LRAT |
LRPPRC |
LYRM4 |
LYRM7 |
MAGT1 |
MAN1B1 |
MAN2B1 |
MANBA |
MAOA |
MARS2 |
MAT1A |
MAT2A |
MBD5 |
MC2R |
MCCC1 |
MCCC2 |
MCEE |
MCOLN1 |
MDH2 |
MECR |
MFF |
MFN2 |
MFSD2A |
MFSD8 |
MGAT2 |
MGME1 |
MICOS13 |
MICU1 |
MICU2 |
MIPEP |
MLC1 |
MLPH |
MLYCD |
MMAB |
MMACHC |
MMADHC |
MMUT |
MMAA |
MOCOS |
MOCS1 |
MOCS2 |
MOGS |
MPC1 |
MPDU1 |
MPI |
MPV17 |
MRAP |
MRPL12 |
MRPL3 |
MRPL44 |
MRPS16 |
MRPS2 |
MRPS22 |
MRPS23 |
MRPS34 |
MRPS7 |
MSMO1 |
MSTO1 |
MTFMT |
MTHFD1 |
MTHFR |
MTHFS |
MTM1 |
MTMR2 |
MTO1 |
MTPAP |
MTR |
MTRFR |
MTRR |
MTTP |
MVD |
MVK |
MYH2 |
MYO5A |
NADK2 |
NAGA |
NAGLU |
NAGS |
NALCN |
NANS |
NARS2 |
NAXD |
NAXE |
NBAS |
NDST1 |
NDUFA1 |
NDUFA10 |
NDUFA11 |
NDUFA12 |
NDUFA13 |
NDUFA2 |
NDUFA4 |
NDUFA9 |
NDUFAF1 |
NDUFAF2 |
NDUFAF3 |
NDUFAF4 |
NDUFAF5 |
NDUFAF6 |
NDUFB10 |
NDUFB11 |
NDUFB3 |
NDUFB8 |
NDUFB9 |
NDUFS1 |
NDUFS2 |
NDUFS3 |
NDUFS4 |
NDUFS6 |
NDUFS7 |
NDUFS8 |
NDUFV1 |
NDUFV2 |
NEU1 |
NEUROD1 |
NFE2L2 |
NFS1 |
NFU1 |
NGLY1 |
NHLRC1 |
NKX2-1 |
NKX2-5 |
NME1 |
NMNAT1 |
NNT |
NOTCH2 |
NPC1 |
NPC2 |
NR1H4 |
NR3C1 |
NSDHL |
NT5C3A |
NT5E |
NUBPL |
NUS1 |
NAA10 |
OAS1 |
OAT |
OCRL |
OGDH |
OGT |
OPA1 |
OPA3 |
OPLAH |
OTC |
OXCT1 |
PAH |
PAM16 |
PANK2 |
PAPSS2 |
PARK7 |
PARS2 |
PAX4 |
PAX8 |
PC |
PCBD1 |
PCCA |
PCCB |
PCK1 |
PCK2 |
PCLO |
PCSK9 |
PCYT1A |
PDE12 |
PDHA1 |
PDHB |
PDHX |
PDK3 |
PDP1 |
PDSS1 |
PDSS2 |
PDX1 |
PDZK1IP1 |
PEPD |
PET100 |
PEX1 |
PEX10 |
PEX11B |
PEX12 |
PEX13 |
PEX14 |
PEX16 |
PEX19 |
PEX2 |
PEX26 |
PEX3 |
PEX5 |
PEX6 |
PEX7 |
PFKM |
PGAM2 |
PGAP1 |
PGAP2 |
PGAP3 |
PGK1 |
PGM1 |
PGM3 |
PHGDH |
PHKA1 |
PHKA2 |
PHKB |
PHKG2 |
PHYH |
PHYKPL |
PIGA |
PIGC |
PIGG |
PIGH |
PIGL |
PIGM |
PIGN |
PIGO |
PIGP |
PIGQ |
PIGT |
PIGV |
PIGW |
PIK3CA |
PIK3CD |
PIK3R1 |
PIK3R2 |
PIK3R5 |
PIKFYVE |
PINK1 |
PIP5K1C |
PITRM1 |
PKLR |
PLA2G6 |
PLCB1 |
PLCB3 |
PLCB4 |
PLCD1 |
PLCE1 |
PLCG2 |
PLIN1 |
PLPBP |
PMM2 |
PMPCA |
PMPCB |
PMVK |
PNP |
PNPLA1 |
PNPLA2 |
PNPLA4 |
PNPLA6 |
PNPLA8 |
PNPO |
PNPT1 |
POFUT1 |
POGLUT1 |
POLG |
POLG2 |
POMGNT1 |
POMGNT2 |
POMK |
POMT1 |
POMT2 |
POR |
PORCN |
PPA2 |
PPCS |
PPM1K |
PPOX |
PPP2R1A |
PPP2R5D |
PPT1 |
PRDX1 |
PREPL |
PRKAG2 |
PRKCSH |
PRKN |
PRODH |
PRODH2 |
PRPS1 |
PSAP |
PSAT1 |
PSPH |
PTDSS1 |
PTEN |
PTRH2 |
PTS |
PURA |
PUS1 |
PYCR1 |
PYCR2 |
PYGL |
PYGM |
QARS1 |
QDPR |
QRSL1 |
RAB27A |
RAB3GAP1 |
RAB7A |
RARS1 |
RARS2 |
RBCK1 |
RBP3 |
RBP4 |
RDH11 |
RDH12 |
RDH5 |
RFT1 |
RFX6 |
RLBP1 |
RMND1 |
RNASEH1 |
RNASEH2A |
RNASEH2B |
RNASEH2C |
RNASET2 |
RNF31 |
RPE65 |
RPIA |
RRM2B |
RTN4IP1 |
RXYLT1 |
SACS |
SAMHD1 |
SAR1B |
SARDH |
SARS2 |
SBF1 |
SBF2 |
SC5D |
SCARB2 |
SCN1A |
SCO1 |
SCO2 |
SCP2 |
SDHA |
SDHAF1 |
SDHAF2 |
SDHB |
SDHC |
SDHD |
SDR9C7 |
SEC23A |
SEC23B |
SECISBP2 |
SELENBP1 |
SELENOI |
SEPSECS |
SERAC1 |
SFXN4 |
SGPL1 |
SGSH |
SHPK |
SI |
SLC10A1 |
SLC10A2 |
SLC11A2 |
SLC12A3 |
SLC16A1 |
SLC16A2 |
SLC17A5 |
SLC18A2 |
SLC19A2 |
SLC19A3 |
SLC1A1 |
SLC1A2 |
SLC1A3 |
SLC1A4 |
SLC22A12 |
SLC22A5 |
SLC25A1 |
SLC25A10 |
SLC25A12 |
SLC25A13 |
SLC25A15 |
SLC25A19 |
SLC25A20 |
SLC25A22 |
SLC25A24 |
SLC25A26 |
SLC25A3 |
SLC25A32 |
SLC25A38 |
SLC25A4 |
SLC25A42 |
SLC25A46 |
SLC26A1 |
SLC26A2 |
SLC26A4 |
SLC27A4 |
SLC27A5 |
SLC29A1 |
SLC29A3 |
SLC2A1 |
SLC2A10 |
SLC2A2 |
SLC2A9 |
SLC30A10 |
SLC30A2 |
SLC30A9 |
SLC33A1 |
SLC35A1 |
SLC35A2 |
SLC35A3 |
SLC35C1 |
SLC35D1 |
SLC36A2 |
SLC37A4 |
SLC38A8 |
SLC39A13 |
SLC39A14 |
SLC39A4 |
SLC39A8 |
SLC3A1 |
SLC40A1 |
SLC45A1 |
SLC46A1 |
SLC52A1 |
SLC52A2 |
SLC52A3 |
SLC5A1 |
SLC5A2 |
SLC5A5 |
SLC5A6 |
SLC6A1 |
SLC6A17 |
SLC6A19 |
SLC6A20 |
SLC6A3 |
SLC6A5 |
SLC6A8 |
SLC6A9 |
SLC7A2 |
SLC7A5 |
SLC7A7 |
SLC7A9 |
SLC9A1 |
SLCO1B1 |
SLCO1B3 |
SLCO2A1 |
SMPD1 |
SMS |
SNX14 |
SORD |
SPG11 |
SPG7 |
SPR |
SPTLC1 |
SPTLC2 |
SRD5A3 |
SSBP1 |
SSR3 |
SSR4 |
ST3GAL3 |
ST3GAL5 |
STAP1 |
STAR |
STAT2 |
STING1 |
STRA6 |
STS |
STT3A |
STT3B |
STX3 |
STXBP1 |
STXBP5L |
SUCLA2 |
SUCLG1 |
SUGCT |
SUMF1 |
SUOX |
SURF1 |
SYNJ1 |
SZT2 |
TACO1 |
TAFAZZIN |
TALDO1 |
TANGO2 |
TARS2 |
TAT |
TBK1 |
TBXAS1 |
TCN1 |
TCN2 |
TDO2 |
TECPR2 |
TECR |
TF |
TFAM |
TFR2 |
TFRC |
TG |
TH |
THAP11 |
TIMM50 |
TIMM8A |
TIMMDC1 |
TJP2 |
TK2 |
TKT |
TMEM126A |
TMEM126B |
TMEM165 |
TMEM199 |
TMEM240 |
TMEM70 |
TMLHE |
TMPRSS6 |
TPI1 |
TPK1 |
TPMT |
TPO |
TPP1 |
TRAK1 |
TRAPPC11 |
TREH |
TREX1 |
TRIP11 |
TRIT1 |
TRMT10C |
TRMT5 |
TRMU |
TRNT1 |
TRPM6 |
TSFM |
TSHR |
TTC19 |
TTPA |
TUFM |
TUSC3 |
TWNK |
TXN2 |
TXNRD2 |
TYMP |
TYR |
UBIAD1 |
UBQLN2 |
UCP2 |
UGCG |
UGT1A1 |
UMPS |
UNG |
UPB1 |
UQCC2 |
UQCC3 |
UQCRB |
UQCRC2 |
UQCRQ |
UROC1 |
UROD |
UROS |
USP9X |
VARS2 |
VCP |
VDR |
VKORC1 |
VPS13B |
VPS33A |
VPS53 |
WARS2 |
WDR45 |
WFS1 |
WWOX |
XDH |
XPNPEP3 |
XPR1 |
XYLT1 |
XYLT2 |
YARS2 |
YME1L1 |
ZBTB42 |
ZDHHC15 |
ZDHHC9 |
ZFYVE26 |
ZNF143 |
AARS1 |
AARS2 |
AASS |