NeuroA-NGS

Doenças motoras e sensitivas do sistema nervoso periférico - sequenciamento - 622 genes

Painel completo - Sequenciamento 622 genes previamente associados à doença de Charcot-Marie-Tooth, neuropatias periféricas, neuronopatias motoras atrofia espinhal, hipoplasia cerebelar, distonia de início precoce, distonias (de inicio precoce e do adulto), distúrbios de movimento, doenças de neurotrasmissores (inclui distonia sensível à dopamina), ataxia hereditária, paraplegia espástica hereditária, doenças estruturais do gânglio basal, entre outras.

Este teste inclui investigação de deleção e duplicação envolvendo o gene PMP22 (Análise CNV a partir de dados de NGS) Este teste não é indicado para a investigação do gene SMN1 (deleção ou mutaão de ponto) Este teste não é indicado para a investigação de expansão de nucleotídeos

AAAS, AARS1, ABAT, ABCA1, ABCB7, ABCD1, ABHD12, ACOX1, ACTB, ADAR, ADCY5, ADGRG1, ADPRHL2, AFG3L2, AGTPBP1, AHI1, AIFM1, AIMP1, ALDH18A1, ALDH5A1, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, ALS2, AMPD2, ANO10, ANO3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL13B, ARMC9, ARSA, ASAH1, ATAD3A, ATCAY, ATG7, ATL1, ATL3, ATM, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D2, BAG3, BCAP31, BCKDHB, BCS1L, BICD2, BRF1, BSCL2, C12orf65, C19orf12, C2CD3, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC115, CD59, CDK5, CENPF, CEP104, CEP290, CEP41, CHCHD10, CHMP1A, CHMP2B, CHST14, CHST3, CHST6, CHSY1, CLCN2, CLN3, CLN5, CLN6, CLP1, CLPB, CNTNAP1, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL6A3, COQ8A, COX10, COX15, COX20, COX6A1, CP, CPLANE1, CPOX, CPT1C, CRB2, CSF1R, CSPP1, CSTB, CTBP1, CTDP1, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS, DARS2, DBH, DCAF17, DCC, DCTN1, DDC, DDHD1, DDHD2, DDX59, DEGS1, DHCR7, DHFR, DHTKD1, DKC1, DLAT, DLD, DNAJB2, DNAJC12, DNAJC19, DNAJC5, DNAJC6, DNM2, DNMT1, DOLK, DPAGT1, DPM1, DPM3, DST, DYNC1H1, EBF3, ECHS1, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ELP1, ENTPD1, EPM2A, ERCC6, ERCC8, ERLIN1, ERLIN2, ETHE1, EVC, EVC2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAH, FAM126A, FARS2, FAT2, FBLN5, FBXO7, FGD4, FGF14, FIG4, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FOXP2, FOXRED1, FRMD4A, FTL, FUT8, FXN, GALC, GALNT3, GAN, GARS1, GBA, GBA2, GBF1, GCDH, GCH1, GDAP1, GDAP2, GFAP, GFPT1, GJB1, GJC2, GLA, GLB1, GLI3, GLRA1, GLRB, GM2A, GMPPB, GNAL, GNAO1, GNB4, GNE, GOSR2, GPAA1, GRID2, GRM1, GRN, GSN, GTPBP2, HACE1, HADHA, HADHB, HARS1, HCFC1, HEATR5B, HEXA, HEXB, HIBCH, HIKESHI, HINT1, HK1, HMBS, HPCA, HPDL, HSPB1, HSPB8, HSPD1, HTRA2, HYLS1, IARS2, ICK, IFIH1, IGHMBP2, INF2, INPP5E, IRF2BPL, ISG15, ISPD, ITPR1, IVD, JAG1, JPH1, KARS1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNMA1, KCNQ2, KCTD17, KDM5C, KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1B, KIF1C, KIF5A, KIF7, KMT2B, L1CAM, LARGE1, LITAF, LMNA, LRPPRC, LRRK2, LRSAM1, LYST, MACF1, MAG, MAN1B1, MAOA, MAPK8IP3, MAPT, MARS1, MARS2, MCM3AP, MECR, MFN2, MGAT2, MKS1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MPV17, MPZ, MRE11, MSTO1, MTFMT, MTMR2, MTTP, MUT, MYORG, NAGA, NAGLU, NDRG1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEFH, NEFL, NGF, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NMNAT2, NPC1, NPC2, NPHP1, NPHP3, NT5C2, NTRK1, OCLN, OFD1, OPA1, OPA3, OPHN1, PACS2, PANK2, PARK7, PAX6, PCCA, PCCB, PCLO, PCYT2, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHX, PDK3, PDP1, PDYN, PET100, PEX10, PEX16, PEX6, PEX7, PGAP2, PGAP3, PGM1, PGM3, PHGDH, PHYH, PI4KA, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PINK1, PITRM1, PLA2G6, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, POLG, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPOX, PRDM12, PRICKLE1, PRKCG, PRKN, PRKRA, PRNP, PRPS1, PRRT2, PRX, PSEN1, PTF1A, PTPN11, PTRH2, PTS, PUM1, QDPR, RAB39B, RAB7A, RARS2, REEP1, REEP2, RELN, RETREG1, RFT1, RNASEH2B, RNASEH2C, RNASET2, RNF170, RNF216, ROBO3, RORA, RPGRIP1L, RTN2, RUBCN, RXYLT1, SACS, SAMD9L, SAMHD1, SAR1B, SBF1, SBF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN2A, SCN8A, SCN9A, SCYL1, SDHA, SEC23B, SELENOI, SEPSECS, SEPT9, SERAC1, SETX, SGCE, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A2, SLC18A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC25A19, SLC25A46, SLC2A1, SLC30A10, SLC35A1, SLC35C1, SLC35D1, SLC39A14, SLC39A8, SLC52A2, SLC52A3, SLC5A7, SLC6A3, SLC6A8, SLC9A1, SLC9A6, SMPD4, SNCA, SNX14, SORD, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SSR4, ST3GAL5, STUB1, SUCLA2, SUCLG1, SUOX, SURF1, SYNE1, SYNGAP1, SYNJ1, SYT2, TAF1, TBC1D23, TBK1, TCTN1, TCTN2, TCTN3, TERT, TFG, TGM6, TH, THAP1, THG1L, TIMM8A, TINF2, TMEM106B, TMEM107, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOR1A, TPK1, TPP1, TREX1, TRIM2, TRIP4, TRPA1, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TTR, TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, TYMP, UBA1, UBA5, UBAP1, UCHL1, VAC14, VAMP1, VAMP2, VCP, VLDLR, VPS13A, VPS13B, VPS13D, VPS16, VPS35, VPS35L, VPS41, VPS53, VRK1, VWA1, WARS1, WASHC5, WDR45, WDR45B, WDR73, WDR81, WFS1, WNK1, WWOX, XK, XPA, XPR1, XRCC1, XYLT1, XYLT2, YARS1, YY1, ZFYVE26, ZSWIM6

40503801

40 a 60 dias úteis

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