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FH

Exames relacionados Estratégia de Análise Gene relacionado
Câncer Hereditário Painel por Sequenciamento de Próxima Geração ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASCL1, ASXL1, ATM, ATR, AXIN2, BAP1, BARD1, BDNF, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CASP10, CASP9, CBL, CDC73, CDH1, CDH23, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CREBBP, CSF3R, CTC1, CTNNA1, CTNNB1, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, DNAJC21, DNMT3B, DOCK8, EDN3, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ETV6, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FH, FLCN, G6PC, GATA1, GATA2, GDNF, GLMN, GNAS, GPC3, GREM1, H19, HCLS1, HNF1A, HOXB13, HRAS, IPMK, JAG1, JAK2, KIF1B, KIT, KLLN, KRAS, LAPTM5, LIG4, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MAP3K1, MAX, MEN1, MET, MITF, MLH1, MLH3, MMP1, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MTAP, MUTYH, NBN, NF1, NF2, NHP2, NME1, NOP10, NRAS, NSD1, NTHL1, NTRK1, PALB2, PARN, PAX5, PBRM1, PDGFB, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51, RAD51C
Mitocondriopatias de Etiologia Nuclear Painel por Sequenciamento de Próxima Geração AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ADCK3, ADCK4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOPT1, ATIC, ATP5A1, ATP5E, ATP7B, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C10ORF2, C12ORF65, CA5A, CASP8, CAT, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COASY, COMT, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DECR1, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, EHHADH, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1, FTH1, FXN, GARS, GATM, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HA
Migração Neuronal, Transtorno, Painel Expandido Painel por Sequenciamento de Próxima Geração ACTB, ACTG1, ADGRG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62
Câncer Renal Hereditario Painel por Sequenciamento de Próxima Geração EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
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
Leigh, Síndrome Painel por Sequenciamento de Próxima Geração AARS2, ACAD9, ADCK3, APTX, ATP5E, ATPAF2, BCS1L, C10ORF2, COQ2, COQ9, COX10, COX15, COX4I1, COX4I2, COX6B1, COX7A1, DARS2, DGUOK, DLAT, DLD, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LARS2, LMBRD1, LRPPRC, MPV17, MRPS16, MTFMT, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, RARS2, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TK2, TMEM70, TOMM20, TRMU, TSFM, TTC19, TUFM, TUSC3, TYMP, UQCRB, UQCRQ, YARS2
Fumarato Hidratase, Deficiência Sequenciamento Completo do Gene FH
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