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| Indikation |
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| Material | |
| Klinische Fragestellung | Neurometabolischer Erkrankungen |
| Gene | ABCD1 ABCD4 ACAT1 AGA ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 AMN AMT APTX ARG1 ARHGEF9 ARSA ASAH1 ASL ASNS ASPA ASS1 ATAD1 ATP7A ATP7B AUH BCKDHA BCKDHB BSCL2 BSND BTD CA5A CAD CASR CBLIF CBS CD320 CLCNKB CLDN16 CLDN19 CLN3 CLN5 CLN6 CNNM2 COQ2 COQ4 COQ6 COQ7 COQ8A COQ8B COQ9 CP CPOX CPS1 CUBN CYP27A1 DBT DDC DHCR7 DHFR DLAT DLD DNAJC12 EGF ETFA ETFB ETFDH ETHE1 FAM111A FOLR1 FXYD2 GALC GAMT GATM GCDH GCH1 GCLC GLA GLB1 GLDC GLRA1 GLRB GLUD1 GNS GOT2 GPHN GSS GUSB HCFC1 HEXA HEXB HGSNAT HLCS HMBS HMGCL HMGCS2 HNF1B HSD17B10 IDS IDUA IVD KCNA1 KCNJ10 LIPA LMBRD1 MAN2B1 MCCC1 MCCC2 MCEE MFSD8 MLYCD MMAA MMAB MMACHC MMADHC MMUT MOCS1 MOCS2 MSMO1 MTHFR MTR MTRR NAGLU NAGS NPC1 NPC2 NT5C3A OAT OTC OXCT1 PAH PANK2 PCBD1 PCCA PCCB PDHA1 PDHB PDHX PDP1 PDSS2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM3 PHGDH PHYH PLPBP PNPO PPM1K PRDX1 PRPS1 PSAT1 PSPH PTS QDPR RAPSN SCN4A SGSH SLC12A1 SLC12A3 SLC13A5 SLC18A2 SLC19A1 SLC19A2 SLC19A3 SLC1A3 SLC25A13 SLC25A15 SLC25A19 SLC2A1 SLC30A10 SLC39A14 SLC39A8 SLC46A1 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SLC7A7 SPR TAT TCN1 TCN2 TH TPK1 TPP1 TRPM6 TTPA |
| Methode | Next Generation Sequencing. NGS |