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TPP1

Exames relacionados Estratégia de Análise Gene relacionado
Lipofuscinose Análise de Deleção/Duplicação TPP1
Lipofuscinose Ceroide Neuronal Infantil Tardia Classica Sequenciamento Completo do Gene + Análise de Deleção/Duplicação TPP1
Ataxias Painel por Sequenciamento de Próxima Geração ABHD12, ACO2, AFG3L2, ANO10, APOB, APTX, ATCAY, ATM, ATP8A2, BEAN1, CACNA1A, CACNA1G, CACNB4, CCDC88C, CLCN2, CLN5, COQ2, COQ8A, CYP27A1, DNMT1, ELOVL4, FGF14, FLVCR1, FXN, GOSR2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, LAMA1, MRE11, MTTP, NOP56, NPC1, NPC2, PDSS1, PDSS2, PDYN, PEX7, PHYH, PMPCA, PNKP, PNPLA6, POLG, PRKCG, PTF1A, RUBCN, SACS, SCN2A, SETX, SIL1, SLC1A3, SPG7, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, TWNK, TXN2, VLDLR, WDR73, WFS1, WWOX
Erros Inatos do Metabolismo Painel por Sequenciamento de Próxima Geração ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGL, ALDH7A1, ALDOB, ARG1, ARSA, ARSB, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BCKDK, BTD, CBS, CPS1, CPT1A, CPT2, CTNS, CYP11B1, CYP17A1, CYP21A2, DBT, DLD, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FOLR1, G6PC, G6PD, GAA, GALE, GALK1, GALT, GAMT, GATM, GBA, GBE1, GCDH, GCK, GLB1, GLUD1, GUSB, GYS2, HADH, HADHA, HADHB, HLCS, HMGCL, HMGCS2, HPD, IDS, IDUA, INSR, IVD, KCNJ11, LIPA, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPI, MTHFR, MTR, MTRR, MUT, NAGLU, NAGS, OTC, OXCT1, PAH, PCBD1, PCCA, PCCB, PGM1, PHGDH, PHKA2, PSAT1, PSPH, PTS, PYGL, QDPR, SGSH, SI, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A1, SLC2A2, SLC37A4, SLC46A1, SLC52A2, SLC52A3, SLC7A9, TAT, TCN2, TPP1, GLA, NPC1, NPC2, SMPD1
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
Epilepsia, Painel Expandido Painel por Sequenciamento de Próxima Geração CACNA1A, CASR, GABRD, ASAH1, KCNMA1, ME2, PRICKLE2, SLC4A10, SMC1A, SPR, ST3GAL3, ST3GAL5, SUOX, UBR5, WFS1, ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, CACNA2D2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DEPDC5, DNAJC5, DYNC1H1, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KANSL1, KCNH2, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, LIAS, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, RBFOX1, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2, WWOX, NPR2L, STX1B, CNTN2, CACNB4, CACNA1H, CLCN2, ADRA2B, SNIP1, CPA6, IER3IP1, STRADA, SLC6A1, LNPK, ICK, TRAPPC6B, NACC1, PROSC, NPRL3, PRDM8, SLC12A5, LMNB2, SPATA5, RELN, GAL, CERS1, KCNC1, SRPX2, CRH, NPRL2
Epilepsia Painel por Sequenciamento de Próxima Geração SLC6A8, SLC9A6, SMC1A, SPR, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SUOX, SYN1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, UBR5, WFS1, ZEB2
Lipofuscinose Ceróide Neuronal Infantil Painel por Sequenciamento de Próxima Geração ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
Encefalopatia Epiléptica Infantil Precoce, Autossômica Recessiva Painel por Sequenciamento de Próxima Geração ACY1, ADSL, ALDH7A1, ARFGEF2, BCKDK, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, EPM2A, FARS2, FOLR1, GAMT, GOSR2, KCNJ10, KCTD7, MFSD8, NHLRC1, NRXN1, PIGO, PLCB1, PNKP, PNPO, POLG, PPT1, ROGDI, SCARB2, SLC19A3, SLC25A22, ST3GAL3, ST3GAL5, SZT2, TBC1D24, TNK2, TPP1, WWOX
Subscrever TPP1