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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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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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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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Neuropatia Periférica |
Painel por Sequenciamento de Próxima Geração |
AARS, ABCD1, ARHGEF10, ARSA, ATL1, ATM, ATP7A, BICD2, BSCL2, CCT5, CTDP1, CYP27A1, CYP7B1, DCTN1, DCAF8, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GALC, GAN, GARS, GBE1, GDAP1, GJB1, GJB3, GLA, GNB4, HARS, HINT1, HINT2, HK1, HMBS, HSN2, HSPB1, HSPB3, HSPB8, HSPD1, IGHMBP2, IKBKAP, INF2, KARS, KIAA0196, KIF1A, KIF1B, KIF5A, L1CAM, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NIPA1, NTRK1, PDK3, PHYH, PLEKHG5, PLP1, PMP22, PRPS1, PRX, RAB7A, REEP1, RTN2, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC16A2, SLC5A7, SOD1, SPAST, SPG11, SPG20, SPG21, SPG7, SPTLC1, SPTLC2, SPTLC3, TFG, TRIM2, TRPV4, TTR, TUBB3, TYMP, WNK1, XPC, YARS, ZFYVE26, ZFYVE27 |
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Neuropatia Metabólica Sindrômica |
Painel por Sequenciamento de Próxima Geração |
ABCD1, ARSA, ATM, CTDP1, CYP27A1, FBLN5, GALC, GAN, GBE1, GJB3, GLA, HMBS, L1CAM, PHYH, PRPS1, TTR, TUBB3, TYMP, XPC |
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Mitocondriopatia Hepática |
Painel por Sequenciamento de Próxima Geração |
ABHD5, AGL, ATP7B, BCS1L, C10ORF2, CCDC115, CPT1A, DGUOK, GBE1, GFM1, LARS, MPV17, NBAS, PNPLA2, POLG, SCO1, SLC25A26, SUCLG1, TALDO1, TRMU, TSFM |
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Miopatia Metabólica |
Painel por Sequenciamento de Próxima Geração |
ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ |
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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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Hipotonia Muscular, Início Adulto |
Painel por Sequenciamento de Próxima Geração |
ABHD5, ACADM, ACADVL, ACTA1, ADSSL1, AGL, ANO5, BAG3, BICD2, BVES, CAPN3, CASQ1, CAV3, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DYNC1H1, DYSF, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GMPPB, GNE, GYG1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HNRNPU, ISCU, ISPD, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LPIN1, MATR3, MTM1, MYH2, MYH7, MYO9A, MYOT, NEB, ORAI1, PLEC, PNPLA2, POLG, POMGNT1, POMT1, POMT2, PUS1, PYGM, RAPSN, RBCK1, RRM2B, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A1, SLC5A7, SQSTM1, STIM1, SYT2, TCAP, TIA1, TK2, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRPV4, TTN, VCP, VMA21 |
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Glicogênio, Deficiência |
Painel por Sequenciamento de Próxima Geração |
AGL, ALDOA, ENO3, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4, ALDOB, PC, PCK1, PCK2, PRKAG2, SLC16A1 |
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Glicogenose Hepatica |
Painel por Sequenciamento de Próxima Geração |
AGL, FBP1, G6PC, GAA, GBE1, GYS2, PCK1, PHKA2, PHKB, PHKG2, PYGL, SLC2A2, SLC37A4 |
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Erros Inatos do Metabolismo |
Painel por Sequenciamento de Próxima Geração |
ALDOA, ALDOB, FBP1, G6PC, GBE1, GYG1, GYS1, GYS2, LDHA, PGAM2, PHKA1, PHKA2, PHKB, PYGL, SLC2A2 |
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Acinesia Fetal / Artrogripose Multipla Congênita |
Painel por Sequenciamento de Próxima Geração |
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTB, ACTG1, ADCY6, ADGRG6, ADSL, AGL, AGRN, AIMP1, ALG14, ALG2, ANO5, ASCC1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTN1, CNTNAP1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, CTDP1, CUL4B, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM2, DYNC1H1, DYNC2H1, DYSF, ECEL1, EGR2, EMD, ERBB3, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FOXP3, GAA, GARS, GBA, GBE1, GDAP1, GFPT1, GLE1, GMPPB, GNE, HADH |
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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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Cardiomiopatia no Contexto da Doença Neuromuscular |
Painel por Sequenciamento de Próxima Geração |
ACTA1, AGL, BAG3, CAV3, CHKB, CRYAB, DES, DMD, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GNE, LAMP2, LARGE1, LDB3, LMNA, MTO1, MYH7, MYOT, PLEC, PNPLA2, POMGNT1, POMT1, POMT2, SCO2, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A3, SYNE1, SYNE2, TAZ, TCAP, TMEM43, TTN, VCP |
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Armazenamento de Glicogênio e Distúrbios do Metabolismo da Glicose, Doença |
Painel por Sequenciamento de Próxima Geração |
AGL, ALDOA, ALDOB, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PC, PCK1, PCK2, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC16A1, SLC2A2, SLC37A4 |
