Gastro-NGS

Doenças gastroenterológicas: sequenciamento - 176 genes

Painel ampliado para a investigação de genes previamente associados a doença de Hirschsprung familial; enterocolite infantil e doença inflamatória intestinal monogênica, doença neuromuscular do trato gastrointestinal, colestase neonatal, hemocromatose, pancreatite, entre outras.

ABCB11, ABCB4, ABCB7, ABCC2, ACTG2, ADA, ADAM17, ADK, AICDA, AKR1D1, ALAS2, ALDOB, AMACR, APOA5, APOC2, ATP7B, ATP8B1, ATRX, BAAT, BCS1L, BMP6, BTK, CC2D2A, CD3G, CD40LG, CDX1, CELA3B, CFTR, CLDN1, CLMP, COG7, COL7A1, CP, CTLA4, CTRC, CYBA, CYBB, CYBRD1, CYP27A1, CYP7A1, CYP7B1, DCDC2, DCLRE1C, DES, DGAT1, DGUOK, DMD, DOCK8, EDN3, EDNRB, EPCAM, FAH, FAM58A, FANCB, FERMT1, FLNA, FOXF1, FOXP3, FTL, G6PC3, GALE, GALK1, GALM, GALT, GBA, GBE1, GLI3, GLRX5, GPIHBP1, GUCY2C, HADHA, HAMP, HFE, HFE2, HNF1B, HPS1, HPS4, HPS6, HSD3B7, ICOS, IDS, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, INVS, ITGB2, JAG1, KIF1BP (KIAA1279), L1CAM, LIG3, LIG4, LIPA, LMF1, LPL, LRBA, MED12, MEFV, MID1, MNX1, MPI, MPV17, MVK, MYO5B, NCF1, NCF2, NOTCH2, NPC1, NPC2, NR1H4, OTULIN, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PHOX2B, PIK3CD, PKHD1, POLG, PRSS1, PTEN, RAG1, RAG2, RECQL4, RET, RRM2B, RTEL1, SALL1, SAMD9, SCN11A, SERPINA1, SH2D1A, SKIV2L, SLC11A2, SLC25A13, SLC25A38, SLC26A3, SLC37A4, SLC40A1, SLC9A3, SMPD1, SOX10, SPINK1, SPINT2, STAT1, STAT3, STX3, STXBP2, TALDO1, TF, TFR2, TGFBR1, TGFBR2, TJP2, TMEM70, TMPRSS6, TRMU, TTC37, TTC7A, TYMP, UGT1A1, VIPAS39, VPS33B, WAS, XIAP, ZEB2, ZIC3

40503801

40 a 60 dias úteis

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