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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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Retinopatias, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ABCA4, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADGRV1, AGBL5, AHI1, AHR, AIPL1, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARSG, ATF6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C12ORF65, C1QTNF5, C2ORF71, C5orf42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFH, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, CRB1, CRX, CTSD, CYP4V2, DFNB31, DHDDS, DHX38, DNAJC5, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG2, IQCB1, ITM2B, KCNJ13, KCNV2, KCTD7, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OTX2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G |
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Cardiopatias |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ABCC9, ACTC1, ACTN2, AGL, BAG3, CACNA1C, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, FOXC2, FOXL1, GAA, GJA1, GLA, HAND1, HCN4, IRX4, JUP, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ANKRD1, CALR3, CHRM2, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, LAMA4, LDB3, LRRC10, MED12, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX25, NPPA, PDLIM3, PLEKHM2, PRDM16, TGFB3, TMPO, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, ACADVL, ALMS1, CPT2, DNAJC19, ELAC2, MTO1, SDHA, TMEM70, ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TBX5, TGFB2, TGFBR1, TGFBR2, MAT2A, SMAD6 |
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Síndromes Clinicamente Reconheciveis |
Painel por Sequenciamento de Próxima Geração |
ALMS1, ANKRD11, ARHGAP31, ARID1B, ARL6, ATR, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BRAF, CBL, CDC6, CDT1, CENPJ, CEP152, CEP290, CEP63, CREBBP, DHCR7, DOCK6, EDN3, EDNRB, ELP4, EP300, ERCC8, EYA1, EZH2, FBN2, FGD1, FOXL2, GATA3, GCM2, GLE1, GNAS, GPC3, GPR143, HDAC8, HRAS, IRF6, JAG1, KDM6A, KIF1BP, KMT2A, KMT2D, KRAS, LMNA, LMX1B, LZTFL1, MAP2K1, MAP2K2, MID1, MITF, MKKS, MKS1, MYBPC1, MYH3, MYH8, NF1, NFIX, NIPBL, NOTCH1, NOTCH2, NRAS, NRXN1, NSD1, OCA2, OFD1, ORC1, ORC4, ORC6, PAX3, PAX6, PHF6, PIEZO2, POLR1C, POLR1D, PTH, PTPN11, RAD21, RAF1, RASA1, RBBP8, RECQL4, ROR2, RPS6KA3, SALL1, SDCCAG8, SHOC2, SIX5, SKI, SLC45A2, SMAD3, SMC1A, SMC3, SNAI2, SOS1, SOX10, SPECC1L, SPRED1, SRCAP, STX16, TBCE, TBX5, TCF4, TCOF1, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TNNI2, TNNT3, TP63, TRIM32, TTC8, TYR, TYRP1, VIPAS39, VPS13B, VPS33B, WDPCP, WNT5A, WRN, ZEB2 |
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Surdez Não Sindrômica |
Painel por Sequenciamento de Próxima Geração |
A2ML1, ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ARSG, ATP1A3, ATP2B2, ATP6V1B1, BCS1L, BDP1, BSND, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL1A1, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYL1, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DNAJC3, DSPP, DTNA, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRRB, EYA1, EYA4, FAM136A, FDXR, FGF3, FGFR3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HARS, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MAFB, MARVELD2, MCM2, MET, MIR96, MITF, MPZL2, MRPS2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCARE, PCDH15, PDE1C, PDZD7, PEX1, PEX6, PJVK, PLS3, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRKCB, PRPS1, PTPRQ, RAI1, RDX, REST, RIPOR2, ROR1, R |
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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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Cardiomiopatia Hipertrófica Familiar |
Painel por Sequenciamento de Próxima Geração |
ABCC9, ACTC1, ACTN2, ALMS1, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, MTO1, MYBPC3, MYH7, MYL2, MYL3, NKX25, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, AKAP9, ANKRD1, CACNA2D1, CALR3, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, KCND3, KCNE3, KCNE5, KCNJ5, KCNJ8, LAMA4, LDB3, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NPPA, PDLIM3, PRDM16, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SLMAP, SNTA1, TMPO, TRPM4, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, SHOC2, SOS1, SPRED1 |
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Bardet-Biedl, Síndrome |
Painel por Sequenciamento de Próxima Geração |
ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP |
