Painel Molecular para Doenças Recessivas

Painel destinado ao aconselhamento genético de casais

 

Metodologia 

Sequenciamento de Nova geração

 

Genes Analisados no Painel 

AAAS; AARS; ABCA12; ABCA4; ABCB11; ABCC6; ABCC8; ABCD1; ACAD9; ACADL; ACADM; ACADS; ACADSB; ACADVL; ACAT1; ACE; ACOX1; ACP5; ADA; ADAMTS13; ADAMTS18; ADAMTS2; ADAMTSL2; ADCK3; AFG3L2; AGA; AGL; AGPS; AGT; AGTR1; AGXT; AHI1; AIRE; ALDH3A2; ALDH5A1; ALDH7A1; ALDOB; ALG1; ALG13; ALG6; ALMS1; ALPL; ALS2; AMACR; AMH; AMHR2; AMN; AMPD1; AMT; APTX; AR; ARG1; ARHGEF9; ARSA; ARSB; ARSE; ARX; ASL; ASNS; ASPA; ASS1; ATIC; ATM; ATP6V0A2; ATP6V1B1; ATP7A; ATP7B; ATP8B1; ATR; ATRX; AUH; B4GALT1; BBS1; BBS10; BBS12; BBS2; BCHE; BCKDHA; BCKDHB; BCS1L; BIN1; BLM; BMPR2; BRIP1; BSND; BTD; BTK; CA2; CANT1; CAPN3; CBS; CD3D; CD3E; CD40LG; CD96; CDH23; CDKL5; CEP290; CERKL; CFP; CFTR; CHM; CHRNA1; CHRND; CHRNE; CHRNG; CHST14; CHST3; CIITA; CLDN1; CLDN14; CLDN19; CLN3; CLN5; CLN6; CLN8; CLRN1; CNGB3; CNTNAP2; COL11A2; COL17A1; COL18A1; COL1A2; COL2A1; COL4A3; COL4A4; COL4A5; COL7A1; COQ2; COQ9; CP; CPS1; CPT1A; CPT2; CRB1; CRLF1; CRTAP; CSTB; CTDP1; CTNS; CTSC; CTSD; CTSK; CUBN; CUL7; CYBA; CYBB; CYP11A1; CYP11B1; CYP11B2; CYP17A1; CYP19A1; CYP1B1; CYP21A2; CYP27A1; CYP27B1; CYP7B1; D2HGDH; DAG1; DBT; DCLRE1C; DCX; DDB2; DDC; DDR2; DGUOK; DHCR24; DHCR7; DHDDS; DKC1; DLAT; DLD; DLL3; DMD; DMP1; DNAH5; DNAI1; DNAI2; DNAJC19; DNMT3B; DOCK7; DOLK; DPAGT1; DPM1; DPYD; DSP; DUOX2; DYM; DYNC2H1; DYSF; EDA; EDN3; EDNRB; EFEMP2; EGR2; EIF2AK3; EIF2B5; EMD; ENPP1; EPM2A; ERBB3; ERCC2; ERCC3; ERCC4; ERCC5; ERCC6; ERCC8; ESCO2; ETFA; ETFB; ETFDH; ETHE1; EVC; EVC2; EXOSC3; EYS; F5; F8; F9; FAH; FAM126A; FAM161A; FAM20C; FANCA; FANCB; FANCC; FANCD2; FANCE; FANCF; FANCG; FBLN5; FECH; FGA; FGB; FGD4; FGFR2; FGG; FH; FKBP10; FKBP14; FKRP; FKTN; FLNA; FOLR1; FOXE1; FOXN1; FOXP3; FRRS1; FTCD; FXN; G6PC; G6PC3; G6PD; GAA; GALC; GALK1; GALNS; GALT; GAMT; GATA1; GATM; GBA; GBE1; GCDH; GCH1; GCSH; GDAP1; GDF5; GFM1; GIF; GJA1; GJB2; GJC2; GLB1; GLDC; GLE1; GLI3; GNE; GNPTAB; GNS; GP1BA; GP9; GRHPR; GSS; GTF2H5; GUCY2D; GUSB; HADH; HADHA; HADHB; HAMP; HAX1; HBA1; HBB; HERC2; HES7; HESX1; HEXA; HEXB; HFE; HGD; HGSNAT; HIBCH; HLCS; HMGCL; HOGA1; HPRT1; HPS1; HPS3; HPS4; HSD17B10; HSD17B3; HSD17B4; HSD3B2; HSPG2; IDS; IDUA; IFT80; IGBP1; IGF1; IGHMBP2; IKBKAP; IKBKG; IL11RA; IL2RG; IL7R; INSR; INVS; IQCB1; ITGA6; ITGA7; ITGB4; ITPA; IVD; JAK3; KCNE1; KCNJ1; KCNJ11; KCNQ1; KCTD7; KRT18; KRT8; L1CAM; LAMA2; LAMA3; LAMB2; LAMB3; LAMC2; LARGE; LBR; LCA5; LEPRE1; LFNG; LHCGR; LHX3; LIFR; LIPA; LMAN1; LMBRD1; LMNA; LOXHD1; LPL; LRP2; LRP5; LRPPRC; LYST; MAN2B1; MAPK10; MC2R; MCCC1; MCCC2; MCOLN1; MECP2; MED12; MED17; MED25; MEFV; MESP2; MFSD8; MGAT2; MID1; MKS1; MLC1; MLYCD; MMAA; MMAB; MMACHC; MMADHC; MMP9; MOCS1; MOCS2; MOGS; MPI; MPL; MPV17; MPZ; MRAP; MRE11A; MRPS22; MSTN; MTHFR; MTM1; MTMR2; MTR; MTRR; MTTP; MUT; MUTYH; MVK; MYO15A; MYO5A; MYO7A; NAGA; NAGLU; NAGS; NBN; NDP; NDRG1; NDUFS6; NDUFV2; NEB; NEU1; NEUROG3; NHLRC1; NKX3-2; NPC1; NPC2; NPHP1; NPHP3; NPHP4; NPHS1; NPHS2; NPR2; NR0B1; NR2E3; NTRK1; OCRL; OFD1; OPA3; OSTM1; OTC; OTOF; OXCT1; PAH; PAPSS2; PAX6; PAX8; PC; PCBD1; PCCA; PCCB; PCDH15; PDHA1; PDHB; PDHX; PDP1; PDSS1; PDSS2; PEPD; PEX1; PEX10; PEX2; PEX6; PEX7; PFKL; PFKM; PHF8; PHGDH; PIGA; PKHD1; PKLR; PLA2G6; PLCB1; PLCE1; PLEKHG5; PLG; PLOD1; PLP1; PMM2; PMP22; PNKP; PNPO; POLG; POLR1C; POMGNT1; POMT1; POMT2; POR; POU1F1; PPIB; PPT1; PQBP1; PREPL; PRKAG2; PRKAR1A; PROP1; PRPS1; PRX; PSAP; PSAT1; PSPH; PTH1R; PTS; PUS1; PVRL1; PYGL; PYGM; QDPR; RAB23; RAB27A; RAB3GAP1; RAB3GAP2; RAD50; RAG1; RAG2; RAPSN; RARS2; RBBP8; RDH12; RECQL4; RELN; REN; RLBP1; RPGRIP1L; RS1; RTTN; SACS; SBDS; SBF2; SCNN1A; SCNN1B; SCNN1G; SCO2; SEPN1; SEPSECS; SERPINA1; SERPINH1; SETX; SFTPA1; SFTPB; SFTPC; SGCA; SGCB; SGCD; SGCG; SGSH; SH2D1A; SIL1; SLC12A1; SLC12A3; SLC12A5; SLC12A6; SLC16A2; SLC17A5; SLC19A3; SLC22A5; SLC25A13; SLC25A15; SLC25A20; SLC25A22; SLC26A2; SLC26A3; SLC26A4; SLC34A2; SLC35A1; SLC35A3; SLC35C1; SLC35D1; SLC37A4; SLC39A4; SLC3A1; SLC45A2; SLC4A11; SLC5A5; SLC6A8; SLC7A7; SLC7A9; SLC9A6; SMARCAL1; SMN1; SMPD1; SNAP29; SP110; SP7; SPG11; SPG7; SPR; SRD5A2; ST3GAL5; STAR; STRA6; STXBP1; SUCLG1; SUMF1; SUOX; SZT2; TAT; TAZ; TBC1D2; TBCE; TCAP; TCIRG1; TECPR2; TFR2; TG; TGM1; TH; TIMM8A; TK2; TMEM216; TMEM67; TMIE; TNFRSF11B; TNNT1; TPO; TPP1; TRAPPC2; TREX1; TRIM32; TRIM37; TRIP11; TRMU; TSEN54; TSFM; TSHB; TTC37; TTN; TTPA; TYR; TYRP1; UBA1; UBR1; UQCRB; UQCRQ; UROS; USH1C; USH1G; USH2A; VDR; VLDLR; VPS13A; VPS13B; VPS33B; VPS53; VRK1; VSX2; WAS; WISP3; WNT10A; WNT3; WRN; WT1; XPA; XPC; ZAP70; ZIC3; ZMPSTE24; ZNF469; 

Material

  • Sangue total com EDTA (mínimo 4mL para crianças e até 8mL para adultos)
  • Sangue seco em papel filtro e swab de mucosa oral.


Prazo

40 dias úteis

 

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