MITF

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
Waardenburg, Síndrome, Associada ao Gene MITF	Sequenciamento Completo do Gene + Análise de Deleção/Duplicação	MITF
Waardenburg Síndrome	Painel por Sequenciamento de Próxima Geração	EDN3, EDNRB, MITF, RET, PAX3, SNAI2, SOX10
Waardenburg, Síndrome	Sequenciamento Completo do Gene	MITF
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
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, 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, RP1L1, S1PR
Câncer Renal Hereditario	Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação	BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
Melanoma, Predisposição Hereditária	Painel por Sequenciamento de Próxima Geração	BAP1, CDK4, CDKN2A, MITF, TERT
Câncer Hereditário	Painel por Sequenciamento de Próxima Geração	APC, ATM, BAP1, BARD1, BRIP1, BMPR1A, BRCA1, BRCA2, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
Albinismo Oculocutaneo	Painel por Sequenciamento de Próxima Geração	AP3B1, BLOC1S3, BLOC1S6, CACNA1F, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, OCA5, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1