TARGETED PANELS PORTOFLIO / Neurología
Leucodistrofia – enfermedad de la sustancia blanca
GENES
- AARS2
- ABCD1
- ACOX1
- ADAR
- AIFM1
- AIMP1
- ALDH3A2
- APOPT1(COA8)
- ARSA
- ASPA
- ATPAF2
- BCAP31
- BCS1L
- CIC
- CLCN2
- COQ2
- COQ8A
- COQ9
- COX10
- COX15
- CSF1R
- CYP27A1
- D2HGDH
- DARS
- DARS2
- DEGS1
- DGUOK
- DPYD
- EARS2
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EPRS
- ERCC6
- ERCC8
- ETFDH
- FA2H
- FAM126A
- FLVCR2
- FOLR1
- FOXRED1
- FUCA1
- GALC
- GBE1
- GFAP
- GFM1
- GJA1
- GJB1
- GJC2
- HEPACAM
- HSD17B4
- HSPD1
- IBA57
- IFIH1
- ISCA2
- L2HGDH
- LAMB1
- LMNB1
- LYRM7
- MCOLN1
- MEF2C
- MLC1
- MPLKIP
- MRPS16
- MTFMT
- NDUFAF1
- NDUFAF3
- NDUFAF5
- NDUFS1
- NDUFS2
- NDUFS4
- NDUFS7
- NDUFS8
- NDUFV1
- NKX6-2
- NUBPL
- PAFAH1B1
- PEX1
- PEX10
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PLP1
- POLG
- POLG2
- POLR1C
- POLR3A
- POLR3B
- PSAP
- PYCR2
- RARS
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RRM2B
- SAMHD1
- SCO1
- SCO2
- SCP2
- SDHAF1
- SDHB
- SLC16A2
- SLC17A5
- SLC25A12
- SLC25A4
- SNORD118
- SOX10
- SUCLA2
- SUMF1
- SURF1
- TACO1
- TREX1
- TUBB4A
- TUFM
- TWNK
- TYMP