Leuco-NGS

Doenças da substância branca ou leucoencefalopatias - sequenciamento - 128 genes

Painel direcionado à investigação de doenças da substância branca ou leucoencefalopatias

AARS2, ABCD1, ACBD5, ACOX1, ADAR, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, BCS1L, BOLA3, CIC, CLCN2, CNTNAP1, COQ2, COQ8A, COX10, COX15, CSF1R, CTSA, CYP27A1, D2HGDH, DARS, DARS2, DGUOK, DPYD, EARS2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, ERCC8, ETFDH, FAM126A, FLVCR2, FOLR1, FUCA1, GALC, GALNT2, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, HEPACAM, HEXA, HEXB, HEHSD17B4, HSPD1, IBA57, IFIH1, ISCA2, L2HGDH, LAMB1, LIG3, LMNB1, LYRM7, MCOLN1, MEF2C, MLC1, MPLKIP, MTFMT, NAXE, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX6-2, NUBPL, PAFAH1B1, PEX1, PEX10, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PLP1, POLG, POLG2, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RAB11B, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SLC16A2, SLC17A5, SLC25A12, SLC25A4, SOX10, SPART, SUCLA2, SUMF1, SURF1, TACO1, TMEM106B, TREX1, TUBB4A, TWNK, TYMP, VPS11

40503801

40 a 60 dias úteis

Sob consulta