TPpainelCasal-NGS

Triagem para portadores de mutações associadas a doenças recessivas com objetivo de aconselhamento genético: sequenciamento painel (casal)

Painel para a investigação de genes associados a doenças de herança autossômica recessiva ou ligadas ao cromossomo X

ABCA3, ABCB11, ABCC8, ABCD1, ACADM, ACADS, ACADVL, ACAT1, ACP5, ADA, ADAMTS2, ADAMTSL2, AFF2, AFG3L2, AGA, AGL, AGXT, AHI1, AIRE, ALDH3A2, ALDH7A1, ALDOB, ALPL, AMN, AMT, ANO10, APTX, ARG1, ARSA, ARSB, ARX, ASL, ASPA, ASS1, ATM, ATP7A, ATP7B, ATR, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BIN1, BLM, BTD, BTK, C2CD3, CANT1, CAPN3, CBLIF, CBS, CC2D2A, CCDC40, CCDC88C, CD3D, CD3E, CDH23, CEP290, CFTR, CHAT, CHM, CHRNE, CHST14, CHST3, CLCN1, CLDN14, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, CNTNAP2, COL11A2, COL18A1, COL4A3, COL7A1, COQ2, COQ8A, COQ9, CP, CPS1, CPT1A, CPT2, CRTAP, CTDP1, CTNS, CTSC, CTSK, CUL7, CYBB, CYP11A1, CYP1B1, CYP24A1, CYP27A1, CYP27B1, CYP7B1, DAG1, DBT, DCLRE1C, DDR2, DHCR24, DHCR7, DHDDS, DLAT, DLD, DLL3, DMD, DNAH11, DOK7, DPYD, DUOX2, DYM, DYNC2H1, DYSF, EDAR, EIF2AK3, EIF2B5, ELP1, EMD, ERCC2, ESCO2, ETHE1, EVC, EVC2, F11, F8, F9, FAH, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXO7, FGD4, FH, FKBP10, FKBP14, FKRP, FKTN, FMO3, FOLR1, FOXE1, FTCD, FXN, G6PC, GAA, GALC, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCDH, GCH1, GDAP1, GHRHR, GJB2, GJB6, GLA, GLB1, GLDC, GNE, GNPTAB, GP1BB, GP9, GRHPR, GRIP1, GUSB, HADHA, HADHB, HBA1, HBA2, HBB, HERC2, HES7, HEXA, HEXB, HLCS, HMGCL, HMOX1, HPS1, HPS3, HSD17B4, IDS, IDUA, IFT80, IL11RA, IL2RG, IL7R, ITGA7, IVD, JAK3, KCNE1, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LARGE1, LFNG, LIFR, LMAN1, LMBRD1, LRP2, LRPPRC, LTBP4, MAN2B1, MC2R, MCCC1, MCCC2, MCOLN1, MCPH1, MECP2, MED25, MEFV, MEGF10, MESP2, MID1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMP13, MMP9, MMUT, MOCS1, MOCS2, MPI, MPL, MRAP, MRE11, MTHFR, MTM1, MTMR2, MTR, MTRR, MTTP, MVK, MYO7A, NAGA, NAGLU, NAGS, NBN, NDRG1, NDUFV2, NEB, NECTIN1, NKX3-2, NLRP7, NPC1, NPC2, NPHP1, NPHS1, NPHS2, NPR2, NR0B1, OCA2, OCRL, OPA3, OTC, OTOF, OXCT1, P3H1, PAH, PANK2, PAPSS2, PC, PCBD1, PCCA, PCCB, PCDH15, PDHX, PDSS1, PDSS2, PEX1, PEX2, PEX6, PEX7, PHF8, PHGDH, PKHD1, PLA2G6, PLEC, PLOD1, PLP1, PMM2, POLG, POLR1C, POLR3A, POMGNT1, POMT1, POMT2, POR, PPIB, PPT1, PQBP1, PRF1, PROP1, PRPS1, PRX, PSAT1, PSPH, PTS, PYGM, QDPR, RAB23, RAD50, RAG1, RAG2, RAPSN, RARS2, RBBP8, RECQL4, RMRP, RNASEH2B, RPGR, RS1, RTEL1, RTTN, SACS, SBDS, SBF2, SCO2, SELENON, SERPINH1, SETX, SGCA, SGCB, SGCD, SGCG, SGSH, SLC12A6, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC5A5, SLC6A8, SLC7A7, SMARCAL1, SMPD1, SNAP29, SP7, SPG11, SPG7, SPR, SUMF1, TBX22, TCAP, TF, TG, TGM1, TH, TMEM216, TMIE, TMPRSS15, TMPRSS3, TPO, TPP1, TRAPPC11, TRAPPC2, TRIM32, TRIP11, TSHB, TTC37, TTPA, TYR, UGT1A1, USH1C, USH1G, USH2A, VPS13B, VWF, WAS, WHRN, WISP3, WNT3, WRN, XPC, ZAP70, ZNF335

40503801

40 a 60 dias úteis

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