Metabolsk - TRIO
Sist oppdatert: 21.05.2025
Utgiver: Oslo universitetssykehus
Akkreditert: ISO 15189:2022 Test 286
Mer informasjon
Versjon: 0.13
For tilgang til tidligere versjoner, kontakt redaktøren.
Foreslå endringer/gi kommentarer
Panelbeskrivelse
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.no.
Genliste
Metabolske sykdommer (TRIO) versjon 3.0.0
| 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 |
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For detaljert oversikt over våre svartider se Serviceerklæringen.
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