Colestase-NGS

Colestase: sequenciamento - 63 genes

Painel direcionado à investigação de genes previamente relacionados à Colestase Intrahepática Familial Progressiva (PFIC) e Colestase Neonatal

ABCB11, ABCB4, ABCC2, ADK, AKR1D1, ALDOB, AMACR, ATP7B, ATP8B1, BAAT, BCS1L, CC2D2A, CFTR, CLDN1, COG7, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, FAH, GALE, GALK1, GALM, GALT, GBA, GBE1, HADHA, HNF1B, HSD3B7, INVS, JAG1, LIPA, MPI, MPV17, MVK, MYO5B, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PKHD1, POLG, SERPINA1, SLC25A13, SMPD1, TALDO1, TJP2, TRMU, UGT1A1, VIPAS39, VPS33B

40503801

40 a 60 dias úteis

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