Distonia-NGS

Distonias - sequenciamento - 173 genes

Painel ampliado contendo 173 genes associados a distonias (de inicio precoce e do adulto), distúrbios de movimento, doenças de neurotrasmissores (inclui distonia sensível à dopamina)

Este teste não é indicado para a investigação de expansão de nucleotídeos

ABAT, ACOX1, ACTB, ADAR, ADCY5, AFG3L2, ALDH18A1, ALDH5A1, ANO3, AP1S2, APTX, ARSA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, BCAP31, BCS1L, C19orf12, , CACNA1A, CACNA1G, CACNB4, CHMP2B, CLN3, CLN5, CLPB, COASY, COL6A3, COX10, COX15, CP, CSF1R, CSTB, CYP27A1, DBH, DCAF17, DCTN1, DDC, DHFR, DLAT, DLD, DNAJC12, DNAJC6, ECHS1, FA2H, FBXO7, FOLR1, FOXRED1, FTL, FXN, GBA, GCDH, GCH1, GFAP, GJC2, GLB1, GLRA1, GM2A, GNAL, GNAO1, GRN, GTPBP2, HCFC1, HEXA, HIBCH, HPCA, HSPD1, HTRA2, IFIH1, KCNA1, KCNMA1, KCNQ2, KCTD17, KIAA1161, KIF1C, KMT2B, LRPPRC, LRRK2, LYST, MAOA, MAPT, MARS2, MECR, MRE11, MTFMT, NDUFA1, NDUFA10, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NGLY1, NKX2-1, NKX6-2, NPC1, NPC2, OCLN, OPA3, PANK2, PARK7, PCCA, PCCB, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHX, PET100, PINK1, PLA2G6, PNKD, PNKD2, PNKP, POLR3A, PRKN, PRKRA, PRNP, PRRT2, PTS, QDPR, RAB39B, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SCN8A, SERAC1, SETX, SGCE, SLC18A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A8, SNCA, SPG11, SPR, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBK1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREX1, TUBB4A, VAC14, VAMP1, VAMP2, VPS13A, VPS13D, VPS16, VPS35, WDR45, WDR73, XK, XPR1, YY1, ZSWIM6

40503801

40 a 60 dias úteis

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