NeuroB-NGS+C9orf72-exp

Doenças neurodegenerativas - sequenciamento - 282 genes + análise de repetições GGGGCC

Painel ampliado para a investigação de genes previamente associados a esclerose lateral amiotrófica (ELA) e outras doenças de neurônio motor, doença de Parkinson familial, holoprosencefalia, malformações corticais, lisencefalia, doenças de calcificação intracerebral, doenças da substância branca ou leucoencefalopatias, síndrome de Aicardi-Goutieres, entre outras.

Este teste inclui a detecção de expansões patogênicas no gene C9orf72

AARS2, ABCD1, ACBD5, ACOX1, ACP5, ACTB, ACTG1, ADAR, ADGRG1, AIMP1, AKT3, ALDH3A2, ALS2, ANG, AP1S2, APP, AR, ARFGEF2, ARSA, ARX, ASPA, ASPM, ATN1, ATP13A2, ATP1A3, B3GALNT2, BCAP31, BCS1L, BOLA3, C19orf12, C9orf72, CCND2, CDK13, CDK5, CDON, CEP85L, CHMP2B, CIC, CLCN2, CNTNAP1, COL4A1, COQ2, COQ8A, COX10, COX15, CSF1R, CSNK2A1, CTC1, CTSA, CYP27A1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DCTN1, DCX, DGUOK, DHCR7, DISP1, DNAJC5, DNAJC6, DNMT1, DPYD, DYNC1H1, EARS2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ERCC6, ERCC8, ETFDH, FAM126A, FARSB, FBXO7, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FTL, FUCA1, FUS, GALC, GALNT2, GBA, GBE1, GCH1, GFAP, GFM1, GJA1, GJB1, GJC2, GLI2, GPSM2, GRN, HEPACAM, HEXA, HEXB, HNRNPA1, HSD17B4, HSPD1, IBA57, IFIH1, ISCA2, ISPD, ITM2B, JAM3, JPH3, KATNB1, KIAA1161, KIF1BP, KIF2A, KIF5C, L2HGDH, LAMB1, LAMC3, LARGE1, LIG3, LMNB1, LRRK2, LYRM7, LYST, MACF1, MAPT, MCOLN1, MEF2C, MLC1, MPLKIP, MTFMT, MTOR, NAXE, NDE1, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NHLRC1, NKX6-2, NOP56, NOTCH3, NRROS, NUBPL, OCLN, OPA3, OPTN, OSGEP, PAFAH1B1, PANK2, PARK7, PDGFB, PDGFRB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PIK3CA, PIK3R2, PINK1, PLA2G6, PLP1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PPP2R2B, PRKN, PRKRA, PRNP, PSAP, PSEN1, PSEN2, PTCH1, PTRHD1, PYCR2, RAB11B, RAB39B, RARS, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, RTTN, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SETX, SHH, SIGMAR1, SIX3, SLC16A2, SLC17A5, SLC20A2, SLC25A12, SLC25A4, SLC30A10, SLC39A14, SLC52A2, SLC52A3, SLC6A3, SMO, SNCA, SOD1, SOX10, SPART, SPG11, SPR, SUCLA2, SUMF1, SURF1, SYNJ1, TACO1, TARDBP, TBK1, TBP, TGIF1, TH, TINF2, TMEM106B, TMEM5, TMTC3, TREM2, TREX1, TSC1, TSC2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK, TYMP, TYROBP, UBQLN2, USP18, VAPB, VCP, VPS11, VPS13A, VPS35, WDR45, WDR62, XPR1, ZIC2

40503801

40 a 60 dias úteis

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