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Parkinson e Demências |
Painel por Sequenciamento de Próxima Geração |
A2M, AAAS, ACE, ACMSD, ADH1C, APOE, APP, ATP13A2, ATP1A3, ATXN2, CHCHD2, CSF1R, DCTN1, DJ1, DNAJC6, DNMT1, EIF4G1, FBXO7, GBA, GCH1, GIGYF2, GLUD2, GRN, HTRA2, LRRK2, MAPT, MPO, PARK2, PARK7, PINK1, PLA2G6, PRKAG2, PRKRA, PRNP, PSEN1, PSEN2, SLC30A10, SLC6A3, SNCA, SNCB, SPG7 (PGN), SYNJ1, TAF1, TBP, TH, TREM2, TYROBP, UCHL1, VPS13C, VPS35, C9ORF72, CHCHD10, CHMP2B, FUS, HNRNPA1, HNRNPA2B1, ITM2B, MATR3, NOTCH3, OPTN, PRKAR1B, SIGMAR1, SQSTM1, TARDBP, TBK1, TOMM40, TUBA4A, UBQLN2, VCP |
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Demências |
Painel por Sequenciamento de Próxima Geração |
A2M, ABCD1, ACE, APBB2, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, BIN1, BLMH, C9ORF72, CD2AP, CD33, CHCHD10, CHMP2B, CLU, CR1, CSF1R, CST3, CYP27A1, DCTN1, DNAJC6, DNMT1, EIF4G1, EPHA1, FBXO7, FTL, FUS, GALC, GBA, GCDH, GCH1, GFAP, GLA, GRN, HEXA, HFE, HNRNPA1, HNRNPA2B1, HSD17B10, HTRA2, ITM2B, LMNB1, LRRK2, MAPK10, MAPT, MATR3, MLYCD, MPO, MS4A2, MS4A6, MS4A6E, NOS3, NOTCH3, NPC1, NPC2, OPTN, PANK2, PARK2, PARK7, PINK1, PLA2G6, PLAU, PNKD, POLG, PPT1, PRKRA, PRKAR1B, PRNP, PRRT2, PSAP, PSEN1, PSEN2, SIGMAR1, SGCE, SLC2A1, SLC6A3, SNCA, SNCB, SORL1, SPG11, SPG21, SPR, SQSTM1, TARDBP, TBK1, TBP, TH, THAP1, TOMM40, TOR1A, TREM2, TUBA4A, TYROBP, UBQLN2, UCHL1, VCP, VPS35 |
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Ataxia Espinocerebelar |
Painel por Sequenciamento de Próxima Geração |
SLC52A2, COG5, SLC25A46, KCNC1, FAT2, PLD3, SCYL1, UBA5, KIF26B, EP300, FAT1, XRCC1, VPS13D, FA2H, AAAS, ABCB7, ABHD5, ABHD12, ACADVL, ACO2, ADCK3, AFG3L2, AMPD2, ANO10, AP1S2, APOB, APTX, ARSA, ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATP2B3, C10ORF2, CA8, CACNA1G, CACNB4, CAMTA1, CASK, CCDC88C, CHMP1A, CLCN2, CLN5, CLN6, COQ2, COX20, CP, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DNAJC5, DNMT1, DRD3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FGF14, FLVCR1, FMR1, FOLR1, FUS, FXN, GBA2, GFAP, GJC2, GOS, GOSR2, GRID2, GRM1, HEXA, HEXB, IFRD1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, MARS2, MMACHC, MRE11A, MTPAP, MTTP, NHLRC1, NPC1, NPC2, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX7, PEX16, PHYH, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PRKCG, PRNP, PRRT2, PTF1A, RARS2, RUBCN, RNF170, RNF216, SACS, SAR1B, SCN2A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, SYT14, TDP1, TGM6, TENM4, TMEM240, TPP1, TSEN2, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, T |
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Parkinson Hereditario |
Painel por Sequenciamento de Próxima Geração |
A2M, AAAS, ABCD1, ACE, ACMSD, ADH1C, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, ATXN2, CHCHD2, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC13, DNAJC6, DNMT1, EIF4G1, FBXO7, FUS, GALC, GBA, GCH1, GFAP, GIGYF2, GLA, GLUD2, GRN, HEXA, HTRA2, ITM2B, LMNB1, LRRK2, MAPT, MPO, NOTCH3, NPC1, NPC2, PANK2, PARK7 (DJ1), PINK1, PLA2G6, PNKD, PODXL, POLG, PPT1, PRKAG2, PRKN (PARK2), PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, PTRHD1, RAB39B, RIC3, SGCE, SLC2A1, SLC30A10, SLC6A3, SNCA, SNCB, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TARDBP, TBP, TH, THAP1, TMEM230, TOR1A, TREM2, TYROBP, UBQLN2, UCHL1, VCP, VPS13C, VPS35 |
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Doenças Neuromusculares |
Painel por Sequenciamento de Próxima Geração |
AARS, ABCD1, AFG3L2, ANO5, APTX, ASPA, ATL1, ATM, ATP7A, CACNA1S, CAPN3, CAV3, CLCN1, CP, CYP7B1, DAG1, DES, DMD, DNAJB6, DNM2, DYSF, EGR2, EMD, FGD4, FHL1, FIG4, FKRP, FKTN, FLNC, FUS, FXN, GARS, GDAP1, GJB1, GJB3, HSPB1, HSPB8, KIF5A, L1CAM, LAMP2, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MSTN, MTM1, MTMR2, MYOT, NDRG1, NEFL, NIPA1, NOTCH3, PABPN1, PMP22, POMGNT1, POMT1, POMT2, PRPS1, PRX, PYGM, RAB7A, REEP1, SBF2, SCN4A, SCO2, SETX, SGCA, SGCB, SGCD, SGCG, SOD1, SPAST, SPG11, SPG7, TARDBP, TCAP, TRIM32, TRPV4, VAPB |
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Demências |
Painel por Sequenciamento de Próxima Geração |
C9ORF72, PSEN1, CHCHD10, CHMP2B, CSF1R, DCTN1, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B, MAPT, MATR3, NOTCH3, OPTN, PRKAR1B, PRNP, PSEN2, SIGMAR1, SQSTM1, TARDBP, TBK1, TOMM40, TREM2, TUBA4A, UBQLN2, VCP |
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Esclerose Lateral Amiotrofica |
Painel por Sequenciamento de Próxima Geração |
C9ORF72, ALS2, ANG, ARHGEF28, ATXN2, CHCHD10, CHMP2B, CHRM1, DAO, DCTN1, DPP6, ELP3, ERBB4, EWSR1, FGGY, FIG4, FUS, GLE1, GRN, HFE, HNRNPA1, HNRNPA2B1, HNRNPD, ITPR2, MAPT, MATR3, NEFH, NEK1, OPTN, PARK7, PFN1, PON1, PON2, PON3, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, SRCAP, SS18L1, TAF15, TARDBP, TBK1, TUBA4A, UBQLN2, UNC13A, VAPB, VCP, VEGFA, VPS54, TRPM7, ANXA11, KIF5A |
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Neuropatia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
AAAS, AARS, ABCA1, ABHD12, ACTA1, ADAR, AGRN, AIFM1, ALG14, ALG2, ALS2, AMACR, ANG, ANO5, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATM, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, C12ORF65, CAPN3, CASQ1, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CLP1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX10, COX6A1, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DMD, DNAJB2, DNAJB5, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, EGR2, EMD, EPG5, EXOSC3, EXOSC8, FAM126A, FAM134B, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FUS, FXN, GAA, GALC, GAN, GARS, GBA, GBE1, GDAP1, GFPT1, GJB1, GLA, GMPPB, GNB4, GSN, GYG1, HADHA, HADHB, HARS, HEXA, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, ISPD, ITGA7, KARS, KBTBD13, KIF1A, KIF5A, KLHL13, KLHL40, KY, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LIMS2, LITAF, LMNA, LMOD3, LRP4, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MICAL1, MICU1, MORC2 |
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Alzheimer, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
A2M, ACE, APBB2, APOE, APP, BIN1, BLMH, C9ORF72, CD2AP, CD33, CHCHD10, CHMP2B, CLU, CR1, CSF1R, CST3, DNMT1, EPHA1, FTL, FUS, GBA, GCDH, GRN, HFE, HNRNPA2B1, HSD17B10, ITM2B, MAPK10, MAPT, MLYCD, MPO, MS4A2, MS4A6, MS4A6E, NOS3, PLAU, PRNP, PSEN1, PSEN2, SNCA, SNCB, SORL1, SPG21, SQSTM1, TARDBP, TBP, TREM2, UBQLN2, VCP |
