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| Indikation |
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| Material | |
| Klinische Fragestellung | Leukodystrophie, Leukoenzephalopathie |
| Gene | AARS1 AARS2 ABAT ABCA1 ABCD1 ACADS ACER3 ACO2 ACOX1 ACP5 ACY1 ADAR ADGRG1 ADK ADSL AGA AHDC1 AIFM1 AIMP1 AIMP2 ALDH3A2 ALDH5A1 ALDH6A1 ALG2 AMACR AMPD2 ANK3 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APP ARCN1 ARHGAP31 ARNT2 ARSA ARX ASNS ASPA ASXL1 ASXL2 ATP13A2 ATP7A ATP7B ATP8A2 ATPAF2 ATRN AUH B3GALNT2 BCAP31 BCL11B BCS1L BMP4 BOLA3 BRAT1 C19orf12 CACNA1A CARS2 CCDC88A CHMP2B CLCN2 CLCN7 CLN6 CLP1 CLPP CNTNAP1 COA8 COASY COL4A1 COL4A2 COQ2 COQ7 COQ8A COQ9 COX10 COX14 COX15 COX20 COX6B1 COX7B COX8A CP CPLX1 CPS1 CRAT CSF1R CTBP1 CTC1 CTDP1 CTNS CTSA CYP27A1 CYP2U1 CYP7B1 D2HGDH DAG1 DARS1 DARS2 DBT DCAF17 DDC DDHD2 DDOST DEAF1 DEGS1 DGUOK DHFR DLL4 DNM1L DNM2 DOCK6 DPYS DYRK1A EARS2 EDNRB EGR2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELOVL4 ENTPD1 EPG5 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 ETFA ETFB ETFDH ETHE1 FA2H FAM126A FARS2 FARSB FASTKD2 FBXL4 FDX2 FGD4 FGFRL1 FH FIG4 FKRP FKTN FOLR1 FOXC1 FOXG1 FOXRED1 FTL FUCA1 GAA GALC GALT GAN GBE1 GCDH GDAP1 GFAP GFM1 GFM2 GJA1 GJB1 GJC2 GLA GLB1 GLDC GLRX5 GLUL GLYCTK GNAO1 GRM7 GRN GTF2H5 GTPBP2 HEPACAM HEXA HIBCH HIKESHI HK1 HMGCL HSD17B4 HSPD1 HTRA1 IBA57 IDH2 IDS IDUA IER3IP1 IFIH1 ISCA1 ISCA2 ITPA JAM3 KARS1 KCNJ10 KCNT1 KIF1A KIF5A L2HGDH LAMA1 LAMA2 LAMB1 LARGE1 LETM1 LIAS LIPT1 LIPT2 LMNB1 LONP1 LRPPRC LYRM7 MAG MAN2B1 MAPT MARS2 MAT1A MCOLN1 MEF2C MGP MLC1 MLYCD MMUT MOCS1 MOCS2 MPLKIP MPV17 MPZ MRPL44 MRPS16 MRPS22 MTFMT MTHFR MTR MTRFR MTRR MYORG NADK2 NAXD NAXE NDRG1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NGLY1 NKX6-2 NOTCH1 NOTCH3 NPC1 NPC2 NRXN1 NSD3 NUBPL NUP62 OCRL OSGEP OTC PAFAH1B1 PAH PANK2 PARS2 PC PCDH12 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHGDH PHYH PIGA PINK1 PLA2G6 PLEKHG2 PLP1 PMP22 PNPT1 POLG POLG2 POLR1A POLR1C POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 PPP2R1A PPT1 PRF1 PRKDC PRNP PRPS1 PSAP PSAT1 PSEN1 PTEN PURA PUS3 PYCR2 QARS1 RARS1 RBPJ REPS1 RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF216 RPIA RPS6KC1 RRM2B SAMHD1 SCO1 SCO2 SCP2 SDHA SDHAF1 SDHB SDHD SEPSECS SERAC1 SH3TC2 SHPK SLC13A3 SLC16A2 SLC17A5 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC25A1 SLC25A12 SLC25A22 SLC25A4 SLC25A42 SLC33A1 SLC35A2 SLC46A1 SLC6A8 SLC6A9 SNIP1 SNRPB SON SOX10 SPART SPAST SPATA5 SPG11 SPG7 SPTAN1 SQSTM1 SSR4 STAMBP STAT1 STN1 STX11 STXBP1 STXBP2 SUCLA2 SUMF1 SURF1 SYNE1 TACO1 TAF2 TARS2 TBC1D24 TBCD TBCK TIMM50 TM4SF20 TMEM106B TMEM126B TMEM165 TMEM70 TMTC3 TPI1 TRAPPC11 TRAPPC9 TREM2 TREX1 TRMT10A TRMT5 TSC1 TSEN54 TTC19 TUBB2A TUBB4A TUFM TWNK TYMP TYROBP UBE2A UFM1 UGT1A1 UNC13D UPB1 VARS2 VCP VPS11 VPS33A WARS2 WDR45 WWOX ZEB2 ZFYVE26 ZNF335 |
| Methode | Next Generation Sequencing. NGS |