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EDNRB

Exames relacionados Estratégia de Análise Gene relacionado
Waardenburg, Síndrome, Associada ao Gene EDNRB Sequenciamento Completo do Gene + Análise de Deleção/Duplicação EDNRB
Waardenburg, Síndrome, com Doença de Hirschsprung Painel por Sequenciamento de Próxima Geração EDNRB, EDN3, SOX10
Waardenburg Síndrome Painel por Sequenciamento de Próxima Geração EDN3, EDNRB, MITF, RET, PAX3, SNAI2, SOX10
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
Hirschsprung, Doença Painel por Sequenciamento de Próxima Geração RET, EDNRB
Doenças Autossômicas Recessivas Painel para Análise de Mutação ABCA4, ABCB7, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACOX1, ACTN4, ADA, ADAMTS2, ADAMTSL2, ADCK3, AGA, AGL, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, ALAS2, ALDH4A1, ALDH5A1, ALDOA, ALDOB, ALG1, ALG6, ALMS1, ALPL, AMACR, AMT, ANO5, APTX, AR, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASPM, ASS1, ATIC, ATP7A, ATP7B, ATR, AUH, B4GALT1, B9D2, BCKDHA, BCKDHB, BCS1L, BEST1, BRCA2, BRIP1, BSCL2, BSND, BTD, BTK, C10ORF2, C3, CA2, CAPN3, CBS, CC2D2A, CD2AP, CD40LG, CDH23, CDH3, CDHR1, CDK5RAP2, CENPJ, CEP152, CEP290, CERKL, CFH, CFTR, CHST6, CLCN1, CLCN7, CLDN14, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, COL11A1, COL17A1, COL18A1, COL1A2, COL2A1, COL4A3, COL4A4, COL7A1, COL9A1, COL9A2, COQ2, CPS1, CPT1A, CPT2, CRB1, CRLF1, CRTAP, CRX, CSTB, CTNS, CTSD, CTSK, CYP21A2, CYP4V2, CYP7B1, D2HGDH, DBT, DCLRE1C, DDB2, DDC, DFNB31, DFNB59, DGUOK, DHCR7, DHDDS, DKC1, DLD, DLL3, DMD, DMP1, DNAJC19, DPAGT1, DPM1, DPYD, DSP, DYSF, EDA, EDN3, EDNRB, EGR2, EIF2AK3, EMD, ENO3, ENPP1, ERCC2, ERCC3
Albinismo Painel por Sequenciamento de Próxima Geração AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1
Subscrever EDNRB