Leukodystrophien
Gen-Panel (135 Gene)
AARS2, ABCD1, ACOX1, ADCK3, AIMP1, ALDH3A2, ARSA, ASPA, ATP7A, ATP7B, ATPAF2, AUH, BCAP31, BCS1L, C10ORF2, CLCN2, COL4A1, COQ2, COQ9, COX10, COX15, CSF1R, CYP27A1, CYP7B1, D2HGDH, DARS2, DGUOK, EARS2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC2, ERCC3, ERCC6, ERCC8, ETFDH, FA2H, FAM126A, FIG4, FOLR1, FUCA1, FUS, GALC, GBA, GBE1, GFAP, GFM1, GJA1, GJC2, GLA, GLB1, GM2A, GTF2H5, HEPACAM, HEXA, HEXB, HSD17B4, HSPD1, HTRA1, L2HGDH, LMNB1, MLC1, MPLKIP, MRPS16, NDUFAF1, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOTCH3, NPC1, NPC2, OCLN, OCRL, PEX1, PEX10, PEX12, PEX2, PEX26, PEX3, PEX6, PHGDH, PLP1, POLG, POLG2, POLR3A, POLR3B, PPT1, PRF1, PSAP, PSAP, PSAT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SETX, SLC16A2, SLC17A5, SLC25A12, SLC25A4, SOD1, SOX10, SPAST, SPG11, SPG20, SPG7, SPP1, STX11, STXBP2, SUCLA2, SUMF1, SURF1, TACO1, TARDBP, TREX1, TUFM, TYMP, TYROBP, UNC13D, VAPB, ZFYVE26
