Fostermisdannelser
Oppdatert: 03.09.2026
Forfatter: Line Janger. Godkjent av: Kristoffer Søberg
Utgiver: Oslo universitetssykehus
Akkreditert: ISO 15189:2022 MED 286
Mer informasjon
Publisert dato: 03.09.2026
Versjon: 0.3
For tilgang til tidligere versjoner, kontakt redaktøren.
Foreslå endringer/gi kommentarer
Panelbeskrivelse
Genpanelet tilbys kun som trioanalyse ved misdannelser eller avvik hos foster i pågående svangerskap (prenatal) der genetisk årsak mistenkes. Ta kontakt med laboratoriet ved spørsmål om rekvirering og tidsfrister. Analysen skal ikke tilbys når UL-funn alene gir tilstrekkelig grunnlag for videre behandlingstilbud og/eller avgjørelse om svangerskapsavbrudd.
Ved normalt resultat gjøres reanalyse av HTS-genpanel (EGG): RASopatier som singelanalyse av fosteret. Dette fordi sykdomsgivende varianter i genene i dette panelet er kjent å kunne være nedarvet fra en forelder med mildere klinikk. Når biologiske foreldre ikke er tilgjengelig kan singelanalyse utføres dersom indisert: HTS-genpanel (EFI, pilot): Foster-skjelettmisdannelser (FosterSkel) eller HTS-genpanel (EFI, pilot): Hydrops føtalis (Hydrops).
Genlisten er bygget på relevante kilder/paneler i Genomics Englands PanelApp, og/eller manuelt utarbeidet genliste. Genpanelet oppdateres regelmessig, opptil flere ganger i året. Hver oppdatering medfører som regel små endringer, og dersom det ikke foreligger spesiell indikasjon bør tiden fra forrige analyse, heller enn versjonsnummer, være veiledende for om reanalyse rekvireres. Vanligvis er det ikke indikasjon for reanalyse med mindre det har gått minimum 2-4 år.
Genliste
Fostermisdannelser versjon 2.0.0
| ABCA12 |
| ABCC6 |
| ABCC9 |
| ABHD5 |
| ABI2 |
| ABL1 |
| ACAD9 |
| ACADVL |
| ACAN |
| ACBD6 |
| ACE |
| ACOX1 |
| ACP5 |
| ACTA1 |
| ACTA2 |
| ACTB |
| ACTC1 |
| ACTG1 |
| ACTG2 |
| ACVR1 |
| ACVRL1 |
| ACY1 |
| ADAMTS10 |
| ADAMTS15 |
| ADAMTS17 |
| ADAMTS3 |
| ADAMTSL2 |
| ADAR |
| ADAT3 |
| ADCY6 |
| ADD1 |
| ADGRG1 |
| ADGRG6 |
| ADNP |
| ADSL |
| AFF3 |
| AFF4 |
| AFG2A |
| AGK |
| AGL |
| AGPS |
| AGRN |
| AGT |
| AGTR1 |
| AHCY |
| AHDC1 |
| AHI1 |
| AKT1 |
| AKT2 |
| AKT3 |
| ALDH18A1 |
| ALDH1A2 |
| ALDH1A3 |
| ALDH3A2 |
| ALDH7A1 |
| ALDOA |
| ALG1 |
| ALG12 |
| ALG14 |
| ALG2 |
| ALG3 |
| ALG6 |
| ALG8 |
| ALG9 |
| ALMS1 |
| ALOX12B |
| ALOXE3 |
| ALPK3 |
| ALPL |
| ALX1 |
| ALX3 |
| ALX4 |
| AMACR |
| AMER1 |
| AMMECR1 |
| AMOTL1 |
| AMPD2 |
| AMT |
| ANAPC1 |
| ANGPT2 |
| ANKH |
| ANKLE2 |
| ANKRD11 |
| ANKS6 |
| ANOS1 |
| ANTXR1 |
| ANTXR2 |
| AP1S2 |
| AP4B1 |
| AP4E1 |
| AP4S1 |
| APC2 |
| AR |
| ARCN1 |
| ARF3 |
| ARFGEF2 |
| ARHGAP29 |
| ARHGAP31 |
| ARID1A |
| ARID1B |
| ARID2 |
| ARL13B |
| ARL2BP |
| ARL3 |
| ARL6 |
| ARL6IP1 |
| ARMC9 |
| ARSA |
| ARSB |
| ARSL |
| ARX |
| ASAH1 |
| ASCC1 |
| ASNS |
| ASPA |
| ASPM |
| ASS1 |
| ASXL1 |
| ASXL2 |
| ASXL3 |
| ATAD1 |
| ATAD3A |
| ATG7 |
| ATIC |
| ATN1 |
| ATP1A2 |
| ATP5PO |
| ATP6V0A2 |
| ATP7A |
| ATR |
| ATRX |
| B3GALNT2 |
| B3GALT6 |
| B3GAT3 |
| B3GLCT |
| B4GALT7 |
| B4GAT1 |
| B9D1 |
| B9D2 |
| BBIP1 |
| BBS1 |
| BBS10 |
| BBS12 |
| BBS2 |
| BBS4 |
| BBS5 |
| BBS7 |
| BBS9 |
| BCAP31 |
| BCL11A |
| BCOR |
| BCS1L |
| BFSP2 |
| BGN |
| BHLHA9 |
| BICD2 |
| BIN1 |
| BLM |
| BLTP1 |
| BMP1 |
| BMP2 |
| BMP4 |
| BMPER |
| BMPR1B |
| BNC2 |
| BORCS5 |
| BPNT2 |
| BRAF |
| BRAT1 |
| BRCA1 |
| BRCA2 |
| BRD4 |
| BRF1 |
| BRF2 |
| BRIP1 |
| BRPF1 |
| BSND |
| BTD |
| BUB1B |
| C12orf57 |
| C1orf127 |
| C1QBP |
| C2CD3 |
| C2orf69 |
| CA2 |
| CA8 |
| CACHD1 |
| CACNA1C |
| CACNA1E |
| CACNA1G |
| CACNA1S |
| CAMSAP1 |
| CANT1 |
| CASK |
| CASP2 |
| CASR |
| CBFB |
| CBL |
| CBY1 |
| CC2D2A |
| CCBE1 |
| CCDC103 |
| CCDC22 |
| CCDC32 |
| CCDC39 |
| CCDC40 |
| CCDC8 |
| CCDC88A |
| CCDC88C |
| CCN2 |
| CCND2 |
| CCNQ |
| CDAN1 |
| CDC42 |
| CDC42BPB |
| CDC45 |
| CDC6 |
| CDH1 |
| CDH2 |
| CDH3 |
| CDK10 |
| CDK13 |
| CDK5 |
| CDK5RAP2 |
| CDK8 |
| CDKL5 |
| CDKN1C |
| CDON |
| CDT1 |
| CDX2 |
| CELSR1 |
| CENPF |
| CENPJ |
| CEP104 |
| CEP120 |
| CEP135 |
| CEP152 |
| CEP164 |
| CEP290 |
| CEP295 |
| CEP41 |
| CEP55 |
| CEP57 |
| CEP63 |
| CEP76 |
| CEP83 |
| CEP85L |
| CERS3 |
| CERT1 |
| CFAP298 |
| CFAP300 |
| CFAP410 |
| CFAP418 |
| CFAP45 |
| CFAP52 |
| CFAP53 |
| CFL2 |
| CFTR |
| CHAMP1 |
| CHAT |
| CHD4 |
| CHD7 |
| CHKB |
| CHMP1A |
| CHRNA1 |
| CHRNA3 |
| CHRNB1 |
| CHRND |
| CHRNE |
| CHRNG |
| CHST14 |
| CHST3 |
| CHSY1 |
| CHUK |
| CILK1 |
| CIROP |
| CIT |
| CKAP2L |
| CLCN3 |
| CLCN4 |
| CLCN7 |
| CLCNKA |
| CLCNKB |
| CLP1 |
| CLPB |
| CLTC |
| CLXN |
| CNOT1 |
| CNOT2 |
| CNOT3 |
| CNTNAP1 |
| CNTNAP2 |
| COA7 |
| COASY |
| COG1 |
| COG4 |
| COG5 |
| COG6 |
| COG7 |
| COG8 |
| COL10A1 |
| COL11A1 |
| COL11A2 |
| COL12A1 |
| COL13A1 |
| COL18A1 |
| COL1A1 |
| COL1A2 |
| COL25A1 |
| COL2A1 |
| COL3A1 |
| COL4A1 |
| COL4A2 |
| COL6A1 |
| COL6A2 |
| COL6A3 |
| COL9A1 |
| COL9A2 |
| COLEC10 |
| COLEC11 |
| COLQ |
| COMP |
| COQ2 |
| COQ4 |
| COQ7 |
| COQ9 |
| COX7B |
| CPLANE1 |
| CPLANE2 |
| CPT2 |
| CRADD |
| CRB2 |
| CREB3L1 |
| CREBBP |
| CRIPT |
| CRLF1 |
| CRPPA |
| CRTAP |
| CRYBA1 |
| CRYBA4 |
| CRYBB1 |
| CRYBB2 |
| CRYBB3 |
| CRYGC |
| CRYGD |
| CRYAA |
| CSDE1 |
| CSF1R |
| CSGALNACT1 |
| CSNK2A1 |
| CSPP1 |
| CTC1 |
| CTCF |
| CTNNA2 |
| CTNNB1 |
| CTNND1 |
| CTSA |
| CTSD |
| CTSK |
| CTU2 |
| CUL4B |
| CUL7 |
| CWC27 |
| CYBB |
| CYP11A1 |
| CYP11B1 |
| CYP17A1 |
| CYP1B1 |
| CYP21A2 |
| CYP26B1 |
| CYP2U1 |
| CYP4F22 |
| DAG1 |
| DARS1 |
| DARS2 |
| DAW1 |
| DCC |
| DCHS1 |
| DCX |
| DDR2 |
| DDRGK1 |
| DDX11 |
| DDX3X |
| DDX59 |
| DENND5A |
| DEPDC5 |
| DHCR24 |
| DHCR7 |
| DHFR |
| DHODH |
| DHRSX |
| DHX30 |
| DHX37 |
| DHX9 |
| DIAPH1 |
| DIS3L2 |
| DISP1 |
| DKC1 |
| DLG5 |
| DLL1 |
| DLL3 |
| DLL4 |
| DLX5 |
| DNA2 |
| DNAH11 |
| DNAH5 |
| DNAH9 |
| DNAI1 |
| DNAI2 |
| DNAJB11 |
| DNAL1 |
| DNM1L |
| DNM2 |
| DNMT3A |
| DNMT3B |
| DNAAF1 |
| DNAAF11 |
| DNAAF2 |
| DNAAF3 |
| DNAAF4 |
| DNAAF5 |
| DNAAF6 |
| DOCK6 |
| DOK7 |
| DOLK |
| DONSON |
| DOT1L |
| DPAGT1 |
| DPF2 |
| DPH1 |
| DPH5 |
| DPM1 |
| DPM2 |
| DPM3 |
| DPYSL5 |
| DRG1 |
| DSE |
| DSP |
| DST |
| DSTYK |
| DVL1 |
| DVL3 |
| DYM |
| DYNC1H1 |
| DYNC1I1 |
| DYNC1I2 |
| DYNC2H1 |
| DYNC2I1 |
| DYNC2I2 |
| DYNC2LI1 |
| DYNLT2B |
| DYRK1A |
| DZIP1L |
| EARS2 |
| EBF3 |
| EBP |
| ECEL1 |
| ECHS1 |
| EDNRA |
| EDNRB |
| EED |
| EEF2 |
| EEFSEC |
| EFEMP2 |
| EFL1 |
| EFNB1 |
| EFTUD2 |
| EHBP1L1 |
| EHMT1 |
| EIF2AK3 |
| EIF2B2 |
| EIF2B3 |
| EIF2S3 |
| EIF4A2 |
| EIF4A3 |
| EIF5A |
| ELAC2 |
| ELN |
| ELOVL4 |
| EMC10 |
| EMD |
| EMG1 |
| EML1 |
| EN1 |
| ENG |
| ENPP1 |
| EOGT |
| EP300 |
| EPG5 |
| EPHB4 |
| ERBB3 |
| ERCC1 |
| ERCC2 |
| ERCC3 |
| ERCC4 |
| ERCC5 |
| ERCC6 |
| ERCC8 |
| ERF |
| ERGIC1 |
| ERI1 |
| ESAM |
| ESCO2 |
| ETFA |
| ETFB |
| ETFDH |
| EVC |
| EVC2 |
| EXOC3L2 |
| EXOC6B |
| EXOC7 |
| EXOSC3 |
| EXOSC8 |
| EXOSC9 |
| EXT1 |
| EXT2 |
| EXTL3 |
| EYA1 |
| EZH2 |
| FAH |
| FAM111A |
| FAM149B1 |
| FAM20A |
| FAM20C |
| FANCA |
| FANCB |
| FANCC |
| FANCD2 |
| FANCE |
| FANCF |
| FANCG |
| FANCI |
| FANCL |
| FAR1 |
| FAS |
| FAT1 |
| FAT4 |
| FBLN5 |
| FBN1 |
| FBN2 |
| FBRSL1 |
| FBXL4 |
| FBXO28 |
| FBXW7 |
| FEM1B |
| FGD1 |
| FGF10 |
| FGF3 |
| FGF4 |
| FGF8 |
| FGFR1 |
| FGFR2 |
| FGFR3 |
| FH |
| FIG4 |
| FILIP1 |
| FKBP10 |
| FKBP14 |
| FKRP |
| FKTN |
| FLNA |
| FLNB |
| FLNC |
| FLT4 |
| FLVCR1 |
| FLVCR2 |
| FN1 |
| FOLR1 |
| FOSL2 |
| FOXC1 |
| FOXC2 |
| FOXE1 |
| FOXE3 |
| FOXF1 |
| FOXG1 |
| FOXI3 |
| FOXJ1 |
| FOXP3 |
| FOXP4 |
| FOXRED1 |
| FRA10AC1 |
| FRAS1 |
| FREM1 |
| FREM2 |
| FRMD4A |
| FTL |
| FTO |
| FUT8 |
| FUZ |
| FYCO1 |
| FZD2 |
| FAAP100 |
| G6PC3 |
| GALC |
| GALE |
| GALK1 |
| GALNS |
| GALNT2 |
| GALT |
| GANAB |
| GATA1 |
| GATA2 |
| GATA3 |
| GATA4 |
| GATA6 |
| GATAD2B |
| GATB |
| GBA1 |
| GBA2 |
| GBE1 |
| GCDH |
| GDF1 |
| GDF11 |
| GDF5 |
| GDF6 |
| GEMIN4 |
| GFAP |
| GFM1 |
| GFPT1 |
| GFRA1 |
| GHR |
| GINS3 |
| GJA1 |
| GJA3 |
| GJA8 |
| GJC2 |
| GLA |
| GLB1 |
| GLDC |
| GLDN |
| GLE1 |
| GLI1 |
| GLI2 |
| GLI3 |
| GLIS3 |
| GLUL |
| GMNN |
| GMPPB |
| GNAI2 |
| GNAI3 |
| GNAO1 |
| GNAS |
| GNB1 |
| GNB2 |
| GNPAT |
| GNPTAB |
| GNPTG |
| GON4L |
| GON7 |
| GORAB |
| GPC3 |
| GPC6 |
| GPI |
| GPKOW |
| GPSM2 |
| GPX4 |
| GREB1L |
| GRHL3 |
| GRIN1 |
| GRIN2B |
| GRIP1 |
| GRM7 |
| GSC |
| GTF2H5 |
| GTF3C3 |
| GTPBP2 |
| GTPBP3 |
| GUCY2C |
| GUSB |
| GZF1 |
| GAA |
| H1-4 |
| H3-3A |
| H3-3B |
| HADHA |
| HADHB |
| HBA1 |
| HBA2 |
| HCCS |
| HCFC1 |
| HDAC3 |
| HDAC8 |
| HECTD4 |
| HERC2 |
| HES7 |
| HESX1 |
| HHAT |
| HIBCH |
| HIVEP2 |
| HK1 |
| HMGA2 |
| HMGB1 |
| HMX1 |
| HNF1B |
| HNF4A |
| HNRNPH1 |
| HNRNPH2 |
| HNRNPK |
| HNRNPR |
| HNRNPU |
| HOXA1 |
| HOXA13 |
| HOXD13 |
| HPSE2 |
| HR |
| HRAS |
| HS2ST1 |
| HSD17B3 |
| HSD17B4 |
| HSF4 |
| HSPA9 |
| HSPD1 |
| HSPG2 |
| HUWE1 |
| HYAL2 |
| HYCC1 |
| HYLS1 |
| HAAO |
| IARS1 |
| IBA57 |
| IDH1 |
| IDS |
| IDUA |
| IER3IP1 |
| IFIH1 |
| IFITM5 |
| IFT122 |
| IFT140 |
| IFT172 |
| IFT27 |
| IFT43 |
| IFT52 |
| IFT57 |
| IFT74 |
| IFT80 |
| IFT81 |
| IGF1 |
| IGF1R |
| IGF2 |
| IGHMBP2 |
| IHH |
| IL11RA |
| IL1RAPL1 |
| IL6ST |
| INPP4A |
| INPP5E |
| INPPL1 |
| INSR |
| INTS1 |
| INTS11 |
| INTU |
| INVS |
| IQCB1 |
| IRF6 |
| IRX5 |
| ITGA3 |
| ITGA6 |
| ITGA8 |
| ITGAV |
| ITGB4 |
| JAG1 |
| JAM3 |
| KANSL1 |
| KAT6A |
| KAT6B |
| KATNB1 |
| KATNIP |
| KCNC3 |
| KCNJ1 |
| KCNJ2 |
| KCNJ8 |
| KCNK3 |
| KCNK9 |
| KCTD1 |
| KDELR2 |
| KDM2B |
| KDM4B |
| KDM5C |
| KDM6A |
| KICS2 |
| KIDINS220 |
| KIF11 |
| KIF14 |
| KIF1A |
| KIF21A |
| KIF22 |
| KIF24 |
| KIF26A |
| KIF2A |
| KIF4A |
| KIF5B |
| KIF5C |
| KIF7 |
| KIFBP |
| KIAA0586 |
| KIAA0753 |
| KLF1 |
| KLHL40 |
| KLHL41 |
| KLHL7 |
| KMT2A |
| KMT2B |
| KMT2C |
| KMT2D |
| KNL1 |
| KRAS |
| KRIT1 |
| KYNU |
| L1CAM |
| L2HGDH |
| LAGE3 |
| LAMA1 |
| LAMA2 |
| LAMA5 |
| LAMB1 |
| LAMB2 |
| LAMC3 |
| LARGE1 |
| LARP7 |
| LARS2 |
| LBR |
| LDB1 |
| LEF1 |
| LFNG |
| LGI3 |
| LGI4 |
| LHX3 |
| LHX4 |
| LIFR |
| LIG4 |
| LINC01081 |
| LINC01082 |
| LIPA |
| LIPT2 |
| LMBR1 |
| LMBRD1 |
| LMNA |
| LMNB1 |
| LMNB2 |
| LMOD2 |
| LMOD3 |
| LMX1B |
| LNPK |
| LONP1 |
| LOX |
| LRP2 |
| LRP4 |
| LRP5 |
| LRRC32 |
| LRRC56 |
| LSM1 |
| LSS |
| LTBP1 |
| LTBP3 |
| LTBP4 |
| LYSET |
| LYST |
| LZTFL1 |
| LZTR1 |
| MAB21L1 |
| MAB21L2 |
| MACF1 |
| MAF |
| MAFB |
| MAGED2 |
| MAGEL2 |
| MAN2C1 |
| MAP2K1 |
| MAP2K2 |
| MAP3K1 |
| MAP3K20 |
| MAP3K7 |
| MAP4K4 |
| MAPK1 |
| MAPK8IP3 |
| MAPKAPK5 |
| MAPRE2 |
| MASP1 |
| MAST1 |
| MATN3 |
| MAX |
| MBTPS2 |
| MCIDAS |
| MCOLN1 |
| MCPH1 |
| MDFIC |
| MECOM |
| MED11 |
| MED12 |
| MED13L |
| MED25 |
| MED27 |
| MEF2C |
| MEGF10 |
| MEGF8 |
| MEIS2 |
| MEOX1 |
| MESD |
| MESP2 |
| MFRP |
| MFSD2A |
| MGP |
| MIA3 |
| MICOS13 |
| MID1 |
| MINPP1 |
| MKKS |
| MKS1 |
| MLC1 |
| MLYCD |
| MMACHC |
| MMADHC |
| MMP13 |
| MMP21 |
| MN1 |
| MNS1 |
| MNX1 |
| MOCS1 |
| MOCS2 |
| MOGS |
| MPDU1 |
| MPDZ |
| MPLKIP |
| MRAS |
| MRPS22 |
| MSL2 |
| MSL3 |
| MSMO1 |
| MSTO1 |
| MSX1 |
| MSX2 |
| MTFMT |
| MTM1 |
| MTO1 |
| MTOR |
| MTRFR |
| MUSK |
| MYBBP1A |
| MYBPC1 |
| MYCN |
| MYH10 |
| MYH11 |
| MYH2 |
| MYH3 |
| MYH6 |
| MYH7 |
| MYH8 |
| MYL1 |
| MYL11 |
| MYL9 |
| MYMK |
| MYO18B |
| MYO9A |
| MYOCD |
| MYOD1 |
| MYPN |
| MYRF |
| MYT1 |
| NACC1 |
| NADSYN1 |
| NAGA |
| NALCN |
| NANS |
| NBAS |
| NBN |
| NDE1 |
| NDP |
| NDUFA6 |
| NDUFAF5 |
| NDUFAF8 |
| NDUFB10 |
| NDUFB11 |
| NDUFB3 |
| NDUFB7 |
| NDUFS1 |
| NEB |
| NECTIN1 |
| NECTIN4 |
| NEDD4L |
| NEK1 |
| NEK8 |
| NEK9 |
| NEPRO |
| NEU1 |
| NEXN |
| NF1 |
| NFIA |
| NFIB |
| NFIX |
| NHEJ1 |
| NHS |
| NIPAL4 |
| NIPBL |
| NKX2-5 |
| NKX3-2 |
| NLRP3 |
| NOG |
| NONO |
| NOTCH1 |
| NOTCH2 |
| NOVA2 |
| NPC1 |
| NPC2 |
| NPHP1 |
| NPHP3 |
| NPHP4 |
| NPHS1 |
| NPR2 |
| NR0B1 |
| NR2F1 |
| NR2F2 |
| NR5A1 |
| NR6A1 |
| NRAS |
| NSD1 |
| NSD2 |
| NSDHL |
| NSRP1 |
| NSUN6 |
| NUBPL |
| NUDT2 |
| NUP107 |
| NUP133 |
| NUP188 |
| NXN |
| NAA10 |
| OBSL1 |
| OCLN |
| OCRL |
| ODAD1 |
| ODAD2 |
| ODAD3 |
| ODC1 |
| OFD1 |
| OPHN1 |
| ORC1 |
| ORC4 |
| ORC6 |
| OSGEP |
| OSTM1 |
| OTUD5 |
| OTUD6B |
| OTX2 |
| P3H1 |
| P4HB |
| PACS1 |
| PACS2 |
| PAFAH1B1 |
| PAICS |
| PAK2 |
| PAK3 |
| PALB2 |
| PAN2 |
| PAPSS2 |
| PARN |
| PAX1 |
| PAX2 |
| PAX3 |
| PAX6 |
| PAX7 |
| PAX8 |
| PBX1 |
| PC |
| PCDH12 |
| PCGF2 |
| PCNT |
| PCYT1A |
| PDCD10 |
| PDCD2 |
| PDE3A |
| PDE4D |
| PDGFRB |
| PDHA1 |
| PDHB |
| PDHX |
| PDIA6 |
| PEPD |
| PET100 |
| PEX1 |
| PEX10 |
| PEX11B |
| PEX12 |
| PEX13 |
| PEX14 |
| PEX16 |
| PEX19 |
| PEX2 |
| PEX26 |
| PEX3 |
| PEX5 |
| PEX6 |
| PEX7 |
| PFKM |
| PGAP1 |
| PGAP2 |
| PGAP3 |
| PGM1 |
| PGM3 |
| PHF21A |
| PHF5A |
| PHF6 |
| PHF8 |
| PHGDH |
| PHIP |
| PHOX2B |
| PI4K2A |
| PI4KA |
| PIBF1 |
| PIDD1 |
| PIEZO1 |
| PIEZO2 |
| PIGA |
| PIGB |
| PIGG |
| PIGH |
| PIGK |
| PIGL |
| PIGN |
| PIGO |
| PIGP |
| PIGS |
| PIGT |
| PIGU |
| PIGV |
| PIGW |
| PIK3C2A |
| PIK3CA |
| PIK3R1 |
| PIK3R2 |
| PIP5K1C |
| PITX1 |
| PITX2 |
| PITX3 |
| PKD1 |
| PKD1L1 |
| PKD2 |
| PKDCC |
| PKHD1 |
| PKLR |
| PLAG1 |
| PLCB4 |
| PLD1 |
| PLEC |
| PLG |
| PLK4 |
| PLOD1 |
| PLOD2 |
| PLPBP |
| PLS3 |
| PLXNA1 |
| PLXND1 |
| PLAA |
| PMM2 |
| PNKP |
| PNPLA1 |
| PNPLA8 |
| POC1A |
| POGZ |
| POLE |
| POLG2 |
| POLR1A |
| POLR1B |
| POLR1C |
| POLR1D |
| POLR3A |
| POLR3B |
| POMGNT1 |
| POMGNT2 |
| POMK |
| POMT1 |
| POMT2 |
| POP1 |
| POR |
| PORCN |
| POU1F1 |
| PPFIA3 |
| PPFIBP1 |
| PPIB |
| PPIL1 |
| PPP1CB |
| PPP1R12A |
| PPP1R21 |
| PPP2CA |
| PPP2R1A |
| PPP2R3C |
| PPP2R5D |
| PPP3CA |
| PQBP1 |
| PRDM13 |
| PRF1 |
| PRG4 |
| PRIM1 |
| PRKACA |
| PRKACB |
| PRKAG2 |
| PRKAR1A |
| PRKCI |
| PRKD1 |
| PRMT7 |
| PRR12 |
| PRRX1 |
| PRSS56 |
| PRUNE1 |
| PSAP |
| PSAT1 |
| PSKH1 |
| PSMF1 |
| PSPH |
| PTBP1 |
| PTCH1 |
| PTDSS1 |
| PTEN |
| PTF1A |
| PTH1R |
| PTHLH |
| PTPN11 |
| PTPN14 |
| PTPN23 |
| PTS |
| PUF60 |
| PUM1 |
| PUS3 |
| PXDN |
| PYCR1 |
| PYGM |
| QRICH1 |
| QRSL1 |
| RAB11A |
| RAB11B |
| RAB18 |
| RAB23 |
| RAB33B |
| RAB34 |
| RAB3GAP1 |
| RAB3GAP2 |
| RAC1 |
| RAC3 |
| RAD21 |
| RAD50 |
| RAD51 |
| RAF1 |
| RAI1 |
| RALA |
| RALGAPA1 |
| RAP1B |
| RAPSN |
| RARB |
| RARS2 |
| RASA1 |
| RAX |
| RBBP5 |
| RBBP8 |
| RBM10 |
| RBM8A |
| RBP4 |
| RBPJ |
| RECQL4 |
| RELN |
| REN |
| RERE |
| RET |
| RFT1 |
| RFWD3 |
| RFX6 |
| RHOBTB2 |
| RIPK4 |
| RIPPLY2 |
| RIT1 |
| RLIM |
| RMND1 |
| RMRP |
| RNASEH2A |
| RNASEH2B |
| RNASEH2C |
| RNASET2 |
| RNF113A |
| RNF125 |
| RNU12 |
| RNU4-2 |
| RNU4ATAC |
| RNU5B-1 |
| RNU7-1 |
| ROBO1 |
| ROBO3 |
| ROGDI |
| ROR2 |
| RPGRIP1L |
| RPL10 |
| RPL11 |
| RPL13 |
| RPL15 |
| RPL26 |
| RPL35A |
| RPL5 |
| RPS10 |
| RPS19 |
| RPS24 |
| RPS26 |
| RPS6KA3 |
| RPS7 |
| RRAGC |
| RRAS |
| RRAS2 |
| RREB1 |
| RRM2B |
| RSPH4A |
| RSPH9 |
| RSPO2 |
| RSPRY1 |
| RTEL1 |
| RTTN |
| RUNX2 |
| RXYLT1 |
| RYR1 |
| SALL1 |
| SALL4 |
| SAMD9 |
| SAMHD1 |
| SART3 |
| SASS6 |
| SATB1 |
| SATB2 |
| SBDS |
| SC5D |
| SCAF4 |
| SCARF2 |
| SCLT1 |
| SCN1A |
| SCN2A |
| SCN3A |
| SCN4A |
| SCN5A |
| SCNM1 |
| SCO2 |
| SCUBE3 |
| SCYL2 |
| SDCCAG8 |
| SDR9C7 |
| SEC23B |
| SEC24D |
| SELENON |
| SEMA3A |
| SENP7 |
| SEPSECS |
| SERPINF1 |
| SERPINH1 |
| SETBP1 |
| SETD1A |
| SETD2 |
| SETD5 |
| SF3B4 |
| SGPL1 |
| SH3PXD2B |
| SHANK3 |
| SHH |
| SHMT2 |
| SHOC2 |
| SHOX |
| SHROOM4 |
| SIK3 |
| SIL1 |
| SIN3A |
| SIX2 |
| SIX3 |
| SIX6 |
| SKI |
| SKIC2 |
| SKIC3 |
| SKOR2 |
| SLC10A7 |
| SLC12A1 |
| SLC12A6 |
| SLC12A9 |
| SLC13A5 |
| SLC16A2 |
| SLC17A5 |
| SLC18A3 |
| SLC20A1 |
| SLC25A19 |
| SLC25A20 |
| SLC25A24 |
| SLC25A38 |
| SLC25A4 |
| SLC25A46 |
| SLC26A2 |
| SLC26A3 |
| SLC27A4 |
| SLC29A3 |
| SLC2A10 |
| SLC33A1 |
| SLC34A1 |
| SLC35A2 |
| SLC35A3 |
| SLC35C1 |
| SLC35D1 |
| SLC39A8 |
| SLC4A10 |
| SLC5A6 |
| SLC5A7 |
| SLC6A9 |
| SLF2 |
| SLX4 |
| SMAD2 |
| SMAD3 |
| SMAD4 |
| SMARCA2 |
| SMARCA4 |
| SMARCB1 |
| SMARCC1 |
| SMARCC2 |
| SMARCD1 |
| SMARCE1 |
| SMC1A |
| SMC3 |
| SMC5 |
| SMCHD1 |
| SMG8 |
| SMG9 |
| SMO |
| SMOC1 |
| SMPD1 |
| SMPD4 |
| SMS |
| SNAP25 |
| SNAPIN |
| SNF8 |
| SNORD118 |
| SNRPB |
| SNX10 |
| SNX14 |
| SON |
| SOS1 |
| SOS2 |
| SOST |
| SOX10 |
| SOX11 |
| SOX17 |
| SOX18 |
| SOX2 |
| SOX3 |
| SOX4 |
| SOX6 |
| SOX9 |
| SP7 |
| SPAG1 |
| SPARC |
| SPECC1L |
| SPEG |
| SPEN |
| SPG11 |
| SPINT2 |
| SPOUT1 |
| SPRED1 |
| SPRED2 |
| SPTA1 |
| SPTB |
| SRCAP |
| SRD5A2 |
| SRD5A3 |
| SRPK3 |
| SRY |
| ST14 |
| STAC3 |
| STAG2 |
| STAMBP |
| STAR |
| STIL |
| STRA6 |
| STRADA |
| STT3A |
| STX5 |
| SUCLG1 |
| SUFU |
| SULT2B1 |
| SUMF1 |
| SUZ12 |
| SYNE1 |
| TAB2 |
| TAF1 |
| TAF8 |
| TAFAZZIN |
| TALDO1 |
| TAPT1 |
| TASP1 |
| TBC1D20 |
| TBC1D23 |
| TBC1D24 |
| TBC1D32 |
| TBCD |
| TBCE |
| TBCK |
| TBL1XR1 |
| TBR1 |
| TBX1 |
| TBX15 |
| TBX18 |
| TBX20 |
| TBX3 |
| TBX4 |
| TBX5 |
| TBX6 |
| TCF12 |
| TCF4 |
| TCIRG1 |
| TCOF1 |
| TCP1 |
| TCTN1 |
| TCTN2 |
| TCTN3 |
| TELO2 |
| TENM3 |
| TENT5A |
| TFAP2A |
| TFAP2B |
| TGDS |
| TGFB2 |
| TGFB3 |
| TGFBR1 |
| TGFBR2 |
| TGIF1 |
| TGM1 |
| THOC2 |
| THOC6 |
| THRA |
| THSD1 |
| THUMPD1 |
| TINF2 |
| TK2 |
| TMCO1 |
| TMEM107 |
| TMEM138 |
| TMEM165 |
| TMEM167A |
| TMEM17 |
| TMEM216 |
| TMEM218 |
| TMEM231 |
| TMEM237 |
| TMEM260 |
| TMEM38B |
| TMEM67 |
| TMEM70 |
| TMEM94 |
| TMEM98 |
| TMTC3 |
| TMX2 |
| TNNI2 |
| TNNT1 |
| TNNT3 |
| TOE1 |
| TOGARAM1 |
| TONSL |
| TOP3A |
| TOR1A |
| TOR1AIP1 |
| TP53RK |
| TP63 |
| TP73 |
| TPM2 |
| TPM3 |
| TPRKB |
| TRAF3IP1 |
| TRAF7 |
| TRAIP |
| TRAP1 |
| TRAPPC12 |
| TRAPPC9 |
| TREX1 |
| TRIM37 |
| TRIM71 |
| TRIO |
| TRIP11 |
| TRIP12 |
| TRIP4 |
| TRIT1 |
| TRMT10A |
| TRPS1 |
| TRPV4 |
| TRPV6 |
| TRRAP |
| TSC1 |
| TSC2 |
| TSEN15 |
| TSEN2 |
| TSEN34 |
| TSEN54 |
| TSFM |
| TSHZ3 |
| TTC21B |
| TTC26 |
| TTC7A |
| TTC8 |
| TTN |
| TUBA1A |
| TUBB |
| TUBB2A |
| TUBB2B |
| TUBB3 |
| TUBB4A |
| TUBG1 |
| TUBGCP2 |
| TUBGCP4 |
| TUBGCP6 |
| TWIST1 |
| TWIST2 |
| TXNDC15 |
| TXNL4A |
| U2AF2 |
| UBA1 |
| UBA2 |
| UBE2T |
| UBE3B |
| UBR1 |
| UBR7 |
| UFSP2 |
| UGGT1 |
| UMPS |
| UNC13D |
| UQCRFS1 |
| UROS |
| USP14 |
| USP18 |
| USP9X |
| VAMP1 |
| VEGFC |
| VIPAS39 |
| VLDLR |
| VPS13B |
| VPS33A |
| VPS33B |
| VPS35L |
| VPS4A |
| VPS50 |
| VPS51 |
| VPS53 |
| VRK1 |
| VSX2 |
| WASHC5 |
| WBP11 |
| WBP4 |
| WDPCP |
| WDR19 |
| WDR26 |
| WDR35 |
| WDR37 |
| WDR4 |
| WDR44 |
| WDR47 |
| WDR62 |
| WDR73 |
| WDR81 |
| WDR91 |
| WLS |
| WNK3 |
| WNT1 |
| WNT10B |
| WNT5A |
| WNT7A |
| WNT7B |
| WRAP53 |
| WSB2 |
| WT1 |
| WWOX |
| XRCC4 |
| XYLT1 |
| XYLT2 |
| YRDC |
| YY1 |
| YY1AP1 |
| ZBTB18 |
| ZBTB20 |
| ZBTB7A |
| ZC4H2 |
| ZEB1 |
| ZEB2 |
| ZFP57 |
| ZFX |
| ZIC1 |
| ZIC2 |
| ZIC3 |
| ZMIZ1 |
| ZMPSTE24 |
| ZMYM2 |
| ZMYND10 |
| ZNF335 |
| ZNF462 |
| ZNF526 |
| ZNF668 |
| ZNF699 |
| ZPR1 |
| ZRSR2 |
| ZSWIM6 |
| AAAS |
| AARS2 |
Metodebeskrivelse og -begrensninger
Det utføres genomsekvensering, og deretter filtrering og vurdering av sekvensvarianter i kodende regioner og ekson/intron-overganger samt kopitallsvarianter i genene inkludert i genpanelet.
Rekvisisjon
Svartider
Svartid regnes fra prøven er mottatt i vårt laboratorium til svarrapport er sendt ut fra vårt laboratorium. Ta kontakt med laboratorielege ved ønsker om prioritering av enkelte analyser (tlf. 23016636).
For detaljert oversikt over våre svartider se Serviceerklæringen.
Kopiert
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