NGS analýza - Leukodystrofie a leukoencefalopatie
AARS2, ABAT, ABCD1, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, APP, ARSA, ASPA, AUH, B3GALNT2, BOLA3, CLCN2, CNTNAP1, COA8, COL4A1, COX10, COX6B1, CSF1R, CTC1, CYP27A1, DARS, DARS2, DMXL2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC8, FA2H, FAM126A, FDX2, FOLR1, FUCA1, GALC, GBE1, GCDH, GFAP, GFM1, GFPT1, GJA1, GJC2, GLA, GLB1, GLRX5, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA2, KIF5A, L2HGDH, LMNB1, LRPPRC, LYRM7, MARS2, MCCC1, MGP, MLC1, MPV17, MRPS22, MTR, NADK2, NDUFS1, NDUFS4, NDUFV1, NOTCH3, NUBPL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PSEN1, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, SAMHD1, SCP2, SDHA, SDHAF1, SDHB, SLC16A2, SLC17A5, SOX10, SPG11, SUMF1, SURF1, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, ZFYVE26
