Leucodistrofias e leucoencefalopatias

Lista de Genes
AARS2, ABCC6, ABCD1, ACOX1, ADA2, ADAR, AIMP1, ALDH3A2, APP, ARSA, ASPA
BCAP31
CLCN2, COL3A1, COL4A1, COL4A2, COLGALT1, COQ2, COX10, COX15, CSF1R, CST3, CTC1, CTSA, CYP27A1
D2HGDH, DARS1, DARS2, DGUOK
EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, ERCC8, ETFDH
FAM126A, FOLR1, FOXC1, FUCA1
GALC, GBE1, GCDH, GFAP, GFM1, GJA1, GJB1, GJC2, GLA
HEPACAM, HSD17B4, HSPD1, HTRA1
IBA57, IFIH1, ISCA2, ITM2B
L2HGDH, LMNB1, LYRM7
MCOLN1, MLC1, MTFMT
NDUFS1, NDUFS2, NDUFS4, NDUFS8, NOTCH3, NUBPL
PEX1, PEX10, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PITX2, PLEKHG2, PLP1, POLG, POLR1C, POLR3A, POLR3B, PSAP, PYCR2
RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B
SAMHD1, SCO1, SCP2, SDHAF1, SLC16A2, SLC17A5, SOX10, STN1, SUCLA2, SUMF1, SURF1
TBCK, TREM2, TREX1, TUBB4A, TWNK, TYMP, TYROBP
VPS11
90 dias
2mL de sangue em tubo com EDTA