TPpainelCasal-NGS-MLPA

Triagem para portadores de mutações associadas a doenças recessivas com objetivo de aconselhamento genético: sequenciamento painel e deleção/duplicação de SMN1/SMN2-MLPA (casal)

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

Inclui análise de deleção e duplicação de SMN1/SMN2 por MLPA

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, SMN1, 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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