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HEXA

Exames relacionados Estratégia de Análise Gene relacionado
Demências Painel por Sequenciamento de Próxima Geração ABCD1, APP, ARSA, ATP13A2, ATP1A3, ATP7B, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC6, EIF4G1, FBXO7, FUS, GALC, GBA, GCH1, GFAP, GLA, GRN, HEXA, HTRA2, ITM2B, LMNB1, LRRK2, MAPT, NOTCH3, NPC1, NPC2, PANK2, PARK2, PARK7, PINK1, PLA2G6, PNKD, POLG, PPT1, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, SGCE, SLC2A1, SLC6A3, SNCA, SPG11, SPR, SQSTM1, TARDBP, TH, THAP1, TOR1A, TREM2, TYROBP, UBQLN2, UCHL1, VCP, VPS35
Ataxia Espinocerebelar Painel por Sequenciamento de Próxima Geração AAAS, ABCB7, ABHD5, ABHD12, ACADVL, ACO2, ADCK3, AFG3L2, AMPD2, ANO10, AP1S2, APOB, APTX, ARSA, ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATP2B3, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, C10ORF2, CA8, CACNA1A, 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, NOP56, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX7, PEX16, PHYH, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PPP2R2B, PRKCG, PRNP, PRRT2, PTF1A, RARS2, RUBCN, RNF170, RNF216, SACS, SAR1B, SCN2A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TENM4, TMEM240, TPP1, TSEN2, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TXN2, VAMP1, VLDLR
Painel para Detecção de Portadores Assintomáticos de Doenças Genéticas Frequentes em Judeus Painel por Sequenciamento de Próxima Geração ABCC8, ABCD1, ACADM, ADAMTS2, AGL, AIRE, ARSA, ASNS, ASPA, ATM, ATP6V1B1, ATP7B, BBS2, BCKDHB, BLM, CERKL, CFTR, CLRN1, COL4A3, CPT2, CTNS, CYBA, CYP11B2, CYP21A2, CYP27A1, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EYS, F11, FAH, FAM161A, FANCA, FANCC, FKTN, FMR1, G6PC, GAA, GALT, GBA, GBE1, GJB2, GNE, HBA1, HBA2, HBB, HEXA, HOGA1, HPS3, IKBKAP, LDLR, LIPA, LOXHD1, MCOLN1, MED17, MEFV, MLC1, MPL, MTHFR, MTTP, NDUFAF5, NDUFS6, NEB, NR2E3, NTRK1, OAT, OPA3, PAH, PCDH15, PEX2, PEX6, PFKM, PHGDH, PKHD1, PMM2, PUS1, PYGM, RAG2, RAPSN, RARS2, RPE65, RTEL1, SEPSECS, SLC35A3, SMN1, SMPD1, SUMF1, TCIRG1, TECPR2, TMEM216, TRMU, TYMP, USH2A, VPS13A, VRK1, VSX2
Neuropatia, Atrofia Muscular Motor/Proximal/Espinhal Painel por Sequenciamento de Próxima Geração ASAH1, ASCC1, BICD2, CHCHD10, CLP1, DYNC1H1, EXOSC3, EXOSC8, GAA, HEXA, HMBS, IGHMBP2, LAS1L, LMNA, MFN2, PLEKHG5, SETX, SLC52A2, SLC52A3, SMN1, TFG, TRIP4, TRPV4, UBA1, VAPB
Tay-Sachs, Doença Sequenciamento Completo do Gene HEXA
Atrofia Muscular Espinhal, Diagnósticos Diferenciais, Idade Adulta Painel por Sequenciamento de Próxima Geração BICD2, CHCHD10, GAA, HEXA, HMBS, IGHMBP2, SETX, TFG, VAPB
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
Subscrever HEXA