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Deficiência do Transportador de Glicose Tipo 1, Síndrome |
Sequenciamento Completo do Gene |
SLC2A1 |
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Anemia Hemolítica |
Painel por Sequenciamento de Próxima Geração |
ABCG5, ABCG8, ADAMTS13, AK1, ALDOA, ANK1, C3, CD59, CFB, CFI, EPB41, EPB42, FOXP3, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, HK1, MCP, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, SLC2A1, SLC4A1, SPTA1, SPTB, TPI1 |
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Anemias |
Painel por Sequenciamento de Próxima Geração |
ABCB7, AK1, ALAS2, ALDOA, ANK1, BPGM, C15ORF41, CDAN1, COX4I2, EGLN1, EPAS1, EPB41, EPB42, EPO, EPOR, G6PD, GATA1, GCLC, GLRX5, GPI, GSR, GSS, HBB, HK1, HSPA9, JAK2, KCNN4, KIF23, KLF1, LPIN2, NDUFB11, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, PUS1, RHAG, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, SEC23B, SH2B3, SLC11A2, SLC25A38, SLC2A1, SLC30A10, SLC4A1, SPTA1, SPTB, TMPRSS6, TPI1, TRNT1, TSR2, UROS, VHL, YARS2 |
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Distonias e Neuroferritinopatias (NBIA) |
Painel por Sequenciamento de Próxima Geração |
ANO3, ATP1A3, GCH1, GNAL, PARK2, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SLC6A3, SPR, TH, THAP1, TOR1A, TUBB4A, ATP13A2, C19ORF12, COASY, CP, CRAT, DCAF17, FA2H, FTL, GTPBP2, IBA57, PANK2, PLA2G6, REPS1, WDR45 |
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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 |
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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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Rett/ Rett Atípica, Síndrome, Painel sem MECP2, Expandido |
Painel por Sequenciamento de Próxima Geração |
ARX, ATRX, CDKL5, CNTNAP2, CTNNB1, EHMT1, FOLR1, FOXG1, MBD5, MEF2C, NRXN1, OPHN1, PCDH19, PNKP, PQBP1, SLC2A1, SLC9A6, TCF4, UBE3A, ZEB2 |
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Rett Típica e Atípica, Sìndrome, Painel Expandido com MECP2 |
Painel por Sequenciamento de Próxima Geração |
ARX, ATRX, CDKL5, CNTNAP2, CTNNB1, EHMT1, FOLR1, FOXG1, MBD5, MECP2, MEF2C, NRXN1, OPHN1, PCDH19, PNKP, PQBP1, SLC2A1, SLC9A6, TCF4, UBE3A, ZEB2 |
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Rett/Angelman, Síndromes |
Painel por Sequenciamento de Próxima Geração |
ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2 |
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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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Distonia Primaria |
Painel por Sequenciamento de Próxima Geração |
ANO3, ATP1A3, GCH1, GNAL, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SPR, TAF1, TH, THAP1, TOR1A, TUBB4A |
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Distonia Primaria |
Painel por Sequenciamento de Próxima Geração |
ANO3, ATP1A3, CIZ1, DRD2, GCH1, GNAL, PARK2, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SLC6A3, SPR, TH, THAP1, TOR1A, TUBB4A |
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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 |
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Encefalopatia Epiléptica Infantil Precoce, Autossômica Dominante, Ligado ao X |
Painel por Sequenciamento de Próxima Geração |
ARHGEF9, ARX, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, DEPDC5, FOXG1, GABRA1, GABRB3, GABRG2, GNAO1, GRIN2A, HCN1, KCNA2, KCNB1, KCNQ2, KCNQ3, KCNT1, LGI1, MBD5, MECP2, MEF2C, NPRL2, PCDH19, PRRT2, RELN, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC35A2, SLC9A6, SPTAN1, STX1B, STXBP1 |
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Encefalopatia Epiléptica |
Painel por Sequenciamento de Próxima Geração |
ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2 |
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Epilepsia Mioclonica |
Painel por Sequenciamento de Próxima Geração |
ALDH7A1, CACNA1A, CASR, CHRNA2, CHRNA4, CHRNB2, CSTB, DEPDC5, EFHC1, EPM2A, GABRA1, GABRB3, GABRD, GABRG2, GRIN2A, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MBD5, ME2, NHLRC1, PCDH19, PRICKLE1, PRICKLE2, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN9A, SLC2A1, SLC4A10, TBC1D24 |
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Distonia, Discinesia |
Painel por Sequenciamento de Próxima Geração |
ACY1, ADCY5, ANO3, ATM, ATP13A2, ATP1A3, CACNA1B, CIZ1, COL6A3, DLAT, GCDH, GCH1, GNAL, HPCA, KCNMA1, KCTD17, MR1, PDHA1, PDHX, PLA2G6, PNKD, PRKRA, PRRT2, RELN, SCN8A, SGCE, SLC16A2, SLC2A1, SLC30A10, SLC6A3, SPR, SUCLA2, TAF1, TH, THAP1, TOR1A, TUBB4A |
