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Doenças Autossômicas Recessivas, Painel para Compatibilidade Genética para Casais |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ABCB11, ABCC8, ABCD1, ACAD9, ACADM, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BSND, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CPS1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ERCC6, ERCC8, ESCO2, ETFA, ETFDH, ETHE1, EVC, EVC2, EYS, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1, G6PC, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GFM1, GJB1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HGSNAT, HJV, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IL2RG, IVD, KCNJ11, LAMA2, LAMA3 |
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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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Painel para Detecção de Portadores Assintomáticos de Doenças Genéticas Frequentes em Judeus |
Painel por Sequenciamento de Próxima Geração |
ABCB11, ABCC8, ABCD1, ACAD9, ACADM, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BSND, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CPS1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ERCC6, ERCC8, ESCO2, ETFA, ETFDH, ETHE1, EVC, EVC2, EYS, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1, G6PC, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GFM1, GJB1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HGSNAT, HJV, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IL2RG, IVD, KCNJ11, LAMA2, LAMA3 |
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Malformações Cerebrais / Transtorno de Migração Neuronal, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ACTB, ACTG1, ADAR, ADGRG1, AFF2, AGTR2, AKT1, AKT3, ALDH7A1, AP1S2, ARFGEF2, ARHGEF15, ARHGEF6, ARX, ASAH1, ASPA, ASPM, ATP13A2, ATP6AP2, BRWD3, C19ORF12, CACNA1H, CACNB4, CASK, CASR, CCND2, CDK5, CDK5RAP2, CDKL5, CDON, CECR1, CENPJ, CEP152, CHD2, CHD8, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, COL4A1, COL4A2, CP, CSTB, CUL4B, CYP27A1, DARS, DCAF17, DCX, DEPDC5, DIS3L2, DISP1, DKC1, DLG3, DLL1, DOK7, DYRK1A, EEF1A2, EFHC1, EIF2B3, EIF2B5, EIF2S3, EMX2, EOMES, EPM2A, EXOSC3, EZH2, FA2H, FGD1, FGF8, FGFR3, FLNA, FOXG1, FOXH1, FTL, FTSJ1, GABRA1, GABRD, GABRG2, GALC, GAMT, GAS1, GDI1, GK, GLDC, GLI2, GLI3, GNAQ, GOSR2, GPC3, GPSM2, GRIA3, GRIN2A, HCFC1, HCN1, HDAC8, HEPACAM, HERC2, HGSNAT, HNRNPDL, HPRT1, HSD17B10, HTRA1, HUWE1, IDS, IFIH1, IGBP1, IKBKAP, IL1RAPL1, IQSEC2, ITM2B, JAM3, KATNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1BP, KIF2A, KIF5C, KIF7, KLF8, KPTN, L1CAM, LAMB1, LGI1, MAGT1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MEF2C, MID1, MLC1, MYBPC1, NAA10, NDE1 |
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Miopatias e Distrofias Musculares |
Painel por Sequenciamento de Próxima Geração |
ABHD5, ACADS, ACAD9, ACADM, ACADVL, AGL, ABCC9, ABCA4, AMACR, AMPD1, ANO5, ACTC1, ACTA1, ACTN2, ANKRD1, AV3, AKT2, AGPAT2, BSCL2, BAG3, BIN1, B3GALNT2, B4GAT1, BEST1, CACNA1A, CACNB2, CALR3, CAPN3, CAV3, CLCN1, COL6A1, COL6A2, COL6A3, COL12A1, CRYAB, CSRP3, CCDC78, CPT1A, CFL2, CNTN1, CNGA3, CNGB3, CPT2, C1QTNF5, CAV1, CDH3, DAG1, DES, DSP, DSG2, DOLK, DSC2, DMD, DMPK, DNM2, DNAJB6, DNAJC19, DYSF, EMD, EYA4, ETFA, ETFB, ETFDH, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, FDX2, FHL1, FHL2, FKRP, FKTN, FLNC, FSCN2, GAA, GLA, GATA4, GATAD1, GNAT2, GMPPB, GNE, GYS1, GPD1L, HCN4, HNRNPDL, HADH, HADHA, HADHB, ISPD, ILK, ISCU, JPH2, JUP, KCNE3, KBTBD13, KLHL40, KLHL41, LARGE, LAMA2, LAMA4, LAMP2, LDB3, LPIN1, LIMS2, LMNA, LMOD3, LMNB1, MAMLD1, MYOT, MURC, MYBPC3, MTM1, MTMR14, MYF6, MYH6, MYH7, MYL2, MYL3, MYLK2, MYPN, NEB, NEBL, NEXN, PFKM, PDLIM3, PDE6C, PLN, PLP1, PPARG, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POLR3A, POLR3B, PRKAG2, PKP2, PGAM2, PGM1, PGK1, PNPLA2, PHKA1, POLG, POLG2, PY |
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Leucodistrofia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ABCD1, ACOX1, ADAR, ALDH3A2, ARSA, ASPA, CSF1R, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HSD17B4, L2HGDH, LAMA2, LMNB1, MLC1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PLP1, POLR3A, POLR3B, PSAP, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SLC17A5, SOX10, SUMF1, TREX1, TUBB4A, VPS11 |
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Leucodistrofia e Leucoencefalopatia |
Painel por Sequenciamento de Próxima Geração |
AARS, AARS2, ABAT, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, ARSA, ASPA, AUH, B3GALNT2, BCAP31, BOLA3, C11ORF73, CLCN2, CLN6, COL4A1, CSF1R, CTC1, CYP27A1, DAG1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, FBXL4, FOLR1, GALC, GBE1, GCDH, GFAP, GJC2, GLRX5, HEPACAM, HIKESHI, HSD17B4, HSPD1, HTRA1, IFIH1, ISCA2, L2HGDH, LAMB1, LIAS, LMNB1, MARS2, MLC1, MRPS22, NADK2, NOTCH3, PC, PEX1, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SDHA, SDHAF1, SDHD, SLC16A2, SLC17A5, SLC25A12, SOX10, SUMF1, TBCK, TMEM70, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, UGT1A1, VPS11 |
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Leucodistrofia e Biogênese do Peroxissoma, Transtornos |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSD17B4, HSPD1, LMNB1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SDHAF1, SLC16A2, SOX10, SUMF1, TREM2, TREX1, TYROBP |
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Encefalopatias (Mitocondrial/Epiléptico) |
Painel por Sequenciamento de Próxima Geração |
AARS2, ABCB7, ABCD1, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTG2, ADAR, ADCK3, ADCK4, AFG3L2, AGK, AGL, AGRN, AIFM1, AIMP1, ALAS2, ALDH3A2, ALDH7A1, ALG14, ALG2, AMACR, ANO10, APOPT1, APTX, ARG1, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CACNA1A, CACNA1H, CACNB4, CAD, CARS2, CASR, CCDC115, CDKL5, CHAT, CHCHD10, CHD2, CHD8, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CLCN4, CLN3, CLN5, CLN6, CLP1, CLPB, CLPP, COL4A1, COL4A2, COLQ, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, COX8A, CP, CPT1A, CPT2, CSF1R, CSTB, CYP27A1, DARS2, DCAF17, DEPDC5, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC3, DNM2, DOCK7, DOK7, DPAGT1, DPM2, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC8, FA2H, FAM126A, FARS2, FASTKD2, FBXL4, FDX2, FLAD1, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, GABRA1, GABRD, GABRG2, GALC, GAMT |
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Ataxia Infantil com Substância Branca Evanescente Realcionada ao Gene EIF2B |
Painel por Sequenciamento de Próxima Geração |
EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 |
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Macrocefalia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ABCC6, AKT1, AKT3, ASPA, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DIS3L2, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GNAQ, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, KPTN, L1CAM, MED12, MLC1, NFIX, NSD1, OFD1, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135, SETD2, SNX14, STRADA, SYN1, TBC1D7, TSC1, TSC2, UPF3B |
