Painel Molecular para Investigação de Doenças Mendelianas

Painel destinado à pesquisa abrangente de síndromes genéticas

 

Metodologia 

Sequenciamento de Nova geração

 

Genes Analisados no Painel 

A2M; AAAS; AAGAB; AARS; AARS2; AASS; ABAT; ABCA1; ABCA12; ABCA3; ABCA4; ABCB1; ABCB11; ABCB4; ABCB6; ABCB7; ABCC11; ABCC2; ABCC6; ABCC8; ABCC9; ABCD1; ABCD3; ABCD4; ABCG5; ABCG8; ABHD12; ABHD5; ABL1; ACACA; ACAD8; ACAD9; ACADM; ACADS; ACADSB; ACADVL; ACAN; ACAT1; ACAT2; ACE; ACO2; ACOX1; ACP2; ACP33; ACP5; ACSF3; ACSL4; ACTA1; ACTA2; ACTB; ACTC1; ACTG1; ACTN2; ACTN4; ACVR1; ACVR2B; ACVRL1; ACY1; ADA; ADAM17; ADAM9; ADAMTS10; ADAMTS13; ADAMTS17; ADAMTS18; ADAMTS2; ADAMTSL2; ADAMTSL4; ADAR; ADCK3; ADCY5; ADGRV1; ADIPOQ; ADK; ADRA2B; ADSL; AFF2; AFG3L2; AFP; AGA; AGK; AGL; AGPAT2; AGPS; AGRN; AGT; AGTR1; AGXT; AHCY; AHI1; AICDA; AIFM1; AIMP1; AIP; AIPL1; AIRE; AK1; AK2; AKAP9; AKR1C2; AKR1C4; AKR1D1; AKT1; AKT2; AKT3; ALAD; ALAS2; ALDH18A1; ALDH2; ALDH3A2; ALDH4A1; ALDH5A1; ALDH6A1; ALDH7A1; ALDOA; ALDOB; ALG1; ALG10; ALG11; ALG12; ALG13; ALG2; ALG3; ALG6; ALG8; ALG9; ALK; ALMS1; ALOX12B; ALOXE3; ALPL; ALS2; ALX1; ALX3; ALX4; AMACR; AMELX; AMER1; AMH; AMHR2; AMN; AMPD1; AMT; ANG; ANGPTL3; ANK1; ANK2; ANKH; ANKRD11; ANKRD26; ANO10; ANO5; ANO6; ANTXR1; ANTXR2; AP1S2; AP3B1; AP4B1; AP4E1; AP4M1; AP4S1; AP5Z1; APC; APCDD1; APOA1; APOA5; APOB; APOC2; APOC3; APOE; APOL1; APP; APRT; APTX; AQP2; AR; ARFGEF2; ARG1; ARHGAP26; ARHGAP31; ARHGEF10; ARHGEF6; ARHGEF9; ARID1A; ARID1B; ARL13B; ARL6; ARSA; ARSB; ARSE; ARX; ASAH1; ASCC1; ASCL1; ASL; ASNS; ASPA; ASPM; ASPSCR1; ASS1; ASXL1; ASXL3; ATCAY; ATIC; ATL1; ATM; ATN1; ATP13A2; ATP1A2; ATP1A3; ATP2A1; ATP2A2; ATP2B3; ATP2C1; ATP5E; ATP6AP2; ATP6V0A2; ATP6V0A4; ATP7A; ATP7B; ATP8B1; ATPAF2; ATR; ATRX; ATXN1; ATXN10; ATXN2; ATXN3; ATXN7; AUH; AVP; AVPR2; AXIN1; AXIN2; B2M; B3GALNT2; B3GAT3; B3GLCT; B4GALT1; B4GALT7; B9D1; B9D2; BAAT; BAG3; BANF1; BAP1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BCHE; BCKDHA; BCKDHB; BCKDK; BCL10; BCL11A; BCL2; BCL3; BCMO1; BCOR; BCR; BCS1L; BDNF; BEST1; BFSP1; BFSP2; BHLHA9; BIN1; BLK; BLNK; BLOC1S3; BLOC1S6; BLVRA; BMP1; BMP15; BMP2; BMP4; BMPER; BMPR1A; BMPR1B; BMPR2; BOLA3; BPGM; BRAF; BRAT1; BRCA1; BRCA2; BRIP1; BRP44L; BRWD3; BSCL2; BSND; BTD; BTK; BUB1B; C10orf2; C12orf57; C12orf65; C19orf12; C1GALT1C1; C1NH; C1QA; C1QB; C1QC; C1QTNF5; C1R; C1S; C2; C2orf25; C2orf71; C3; C4A; C4B; C4orf26; C5; C5orf42; C6; C7; C7orf22; C8A; C8B; C8orf37; C9; C9orf72; CA12; CA2; CA4; CA8; CABP2; CABP4; CACNA1A; CACNA1C; CACNA1D; CACNA1F; CACNA1G; CACNA1H; CACNA1S; CACNA2D4; CACNB2; CACNB4; CACNG2; CALM1; CALR3; CAMTA1; CANT1; CAPN10; CAPN3; CARD14; CARD9; CASC5; CASK; CASP10; CASP8; CASQ2; CASR; CAT; CATSPER1; CAV1; CAV3; CBFB; CBG; CBL; CBS; CBX2; CC2D1A; CC2D2A; CCBE1; CCDC103; CCDC39; CCDC40; CCDC50; CCDC78; CCDC8; CCDC88C; CCL11; CCM1; CCND1; CCT5; CD151; CD19; CD247; CD2AP; CD320; CD36; CD3D; CD3E; CD3G; CD4; CD40; CD59; CD79A; CD79B; CD81; CD82; CD8A; CD96; CDAN1; CDC6; CDH1; CDH15; CDH23; CDH3; CDHR1; CDK4; CDK5RAP2; CDKL5; CDKN1B; CDKN1C; CDKN2A; CDON; CDSN; CDT1; CEACAM16; CEBPA; CEBPE; CEL; CENPJ; CEP135; CEP152; CEP164; CEP290; CEP41; CEP57; CEP63; CERKL; CERS1; CES1; CETP; CFC1; CFD; CFHR1; CFHR3; CFHR5; CFI; CFL2; CFTR; CHAT; CHD2; CHD7; CHEK2; CHKB; CHM; CHMP1A; CHMP2B; CHMP4B; CHN1; CHRDL1; CHRM3; CHRNA1; CHRNA2; CHRNA4; CHRNA7; CHRNB1; CHRNB2; CHRND; CHRNE; CHRNG; CHST14; CHST3; CHST6; CHSY1; CHUK; CIB2; CIRH1A; CISD2; CITED2; CLCF1; CLCN1; CLCN2; CLCN4; CLCN5; CLCN7; CLCNKA; CLCNKB; CLDN1; CLDN14; CLDN16; CLDN19; CLEC4M; CLEC7A; CLIC2; CLMP; CLN3; CLN5; CLN6; CLN8; CLRN1; CNGA1; CNGA3; CNGB1; CNGB3; CNNM2; CNNM4; CNTN1; CNTNAP2; COA5; COCH; COG1; COG4; COG5; COG6; COG7; COG8; COL10A1; COL11A1; COL11A2; COL17A1; COL18A1; COL1A1; COL1A2; COL2A1; COL3A1; COL4A1; COL4A2; COL4A3; COL4A3BP; COL4A4; COL4A5; COL4A6; COL5A1; COL5A2; COL6A1; COL6A2; COL6A3; COL7A1; COL8A2; COL9A1; COL9A2; COL9A3; COLEC11; COLQ; COMP; COMT; COPA; COQ2; COQ6; COQ9; CORIN; CORO1A; COX10; COX14; COX15; COX4I2; COX6B1; COX7B; CP; CPA6; CPN1; CPOX; CPS1; CPT1A; CPT2; CR2; CRADD; CRB1; CRBN; CREB1; CREBBP; CRELD1; CRLF1; CRTAP; CRX; CRYAB; CRYBA1; CRYBA4; CRYBB1; CRYBB2; CRYBB3; CRYGC; CRYGD; CSF1R; CSF2RA; CSF2RB; CSF3R; CSH1; CSRP3; CST3; CSTA; CSTB; CTC1; CTDP1; CTH; CTHRC1; CTLA4; CTNNB1; CTNS; CTSA; CTSC; CTSD; CTSK; CUBN; CUL3; CUL4B; CUL7; CXCR4; CYB5A; CYB5R3; CYBA; CYBB; CYCS; CYLD; CYP11A1; CYP11B1; CYP11B2; CYP17A1; CYP19A1; CYP1B1; CYP21A2; CYP24A1; CYP26B1; CYP27A1; CYP27B1; CYP2A6; CYP2B6; CYP2C; CYP2C9; CYP2D6; CYP2R1; CYP4F22; CYP4V2; CYP7B1; D2HGDH; DAG1; DARS2; DAX1; DBH; DBT; DCAF17; DCC; DCLRE1C; DCN; DCTN1; DCX; DCXR; DDB2; DDC; DDHD1; DDIT3; DDOST; DDR2; DDX11; DEAF1; DEC1; DES; DFNA5; DGKE; DGUOK; DHCR24; DHCR7; DHDDS; DHFR; DHH; DHODH; DHTKD1; DIAPH1; DIAPH2; DIAPH3; DICER1; DIP2B; DIRC2; DIS3L2; DJ1; DKC1; DLAT; DLD; DLEC1; DLG3; DLL3; DLX3; DLX5; DMD; DMGDH; DMP1; DMPK; DNAAF3; DNAH11; DNAH5; DNAI1; DNAI2; DNAJB2; DNAJB6; DNAJC19; DNAJC5; DNAL1; DNASE1L3; DNM1L; DNM2; DNMT1; DNMT3B; DOCK6; DOCK7; DOCK8; DOK7; DPAGT1; DPM1; DPM2; DPM3; DPP6; DPY19L2; DPYD; DPYS; DSC2; DSC3; DSG1; DSG2; DSG4; DSP; DSPP; DST; DTNA; DTNBP1; DUOX2; DUOXA2; DYM; DYNC1H1; DYNC2H1; DYRK1A; DYSF; DYT1; EARS2; EBP; ECE1; ECM1; EDA; EDAR; EDARADD; EDN3; EDNRA; EDNRB; EEF1A2; EFEMP1; EFEMP2; EFHC1; EFNB1; EFTUD2; EGF; EGFR; EGLN1; EGR2; EHMT1; EIF2AK3; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; EIF2S3; EIF4G1; ELANE; ELN; ELOVL4; EMD; EMG1; EMX2; ENAM; ENG; ENO3; ENPP1; ENTPD1; EP300; EPAS1; EPB41; EPB41L1; EPB42; EPCAM; EPHA2; EPHB2; EPHX1; EPHX2; EPM2A; EPX; ERBB2; ERBB3; ERCC1; ERCC2; ERCC3; ERCC4; ERCC5; ERCC6; ERCC8; ERLIN2; ERMAP; ESCO2; ESPN; ESRRB; ETFA; ETFB; ETFDH; ETHE1; ETV6; EVC; EWSR1; EXOSC3; EXT1; EXT2; EYA1; EYA4; EYS; EZH2; F10; F11; F12; F13A1; F13B; F2; F5; F7; F8; F9; FA2H; FAAP95; FADD; FAH; FAM126A; FAM134B; FAM161A; FAM20A; FAM20C; FAM58A; FAM83H; FAN1; FANCA; FANCC; FANCD2; FANCE; FANCF; FANCI; FARS2; FAS; FASLG; FASTKD2; FBLN1; FBLN5; FBN1; FBN2; FBP1; FBXO7; FCGR2A; FCGR2B; FCGR2C; FCN3; FCYT; FECH; FGA; FGB; FGD1; FGD4; FGF10; FGF14; FGF23; FGF3; FGF8; FGF9; FGFR1; FGFR2; FGFR3; FHL1; FIG4; FIGLA; FKBP10; FKBP14; FKRP; FKTN; FLCN; FLG; FLJ22792; FLNA; FLNB; FLNC; FLT3; FLT4; FLVCR1; FLVCR2; FMO3; FMR1; FN1; FOLR1; FOXC1; FOXC2; FOXE1; FOXE3; FOXF1; FOXG1; FOXI1; FOXL2; FOXN1; FOXP1; FOXP2; FOXP3; FOXRED1; FRAS1; FREM1; FREM2; FRMD7; FRMPD4; FSCN2; FSHB; FSHR; FTCD; FTL; FTO; FTSJ1; FUCA1; FUS; FUT1; FUT3; FUT6; FUZ; FXN; FXYD2; FYCO1; FZD4; FZD6; G6PC; G6PC3; G6PD; GAA; GABRA1; GABRB3; GABRD; GABRG2; GAD1; GALC; GALE; GALK1; GALNS; GALNT3; GALT; GAMT; GAN; GARS; GATA1; GATA2; GATA3; GATA4; GATA6; GATAD1; GATAD2B; GATM; GBA; GBE1; GCDH; GCH1; GCK; GCLC; GCM2; GCNT2; GCSH; GDAP1; GDF1; GDF3; GDF5; GDF6; GDF8; GDI1; GDNF; GFAP; GFER; GFI1; GFM1; GFPT1; GGCX; GH1; GHR; GHRH; GHRHR; GHSR; GIF; GIGYF2; GIPC3; GJA1; GJA3; GJA5; GJA8; GJB1; GJB2; GJB3; GJB4; GJB6; GJC2; GK; GLA; GLB1; GLDC; GLE1; GLI2; GLI3; GLIS2; GLIS3; GLRA1; GLRB; GLRX5; GLUD1; GLUL; GLYCTK; GM2A; GNAI2; GNAI3; GNAS; GNAT1; GNAT2; GNE; GNMT; GNPAT; GNPTAB; GNRH1; GNRHR; GNS; GORAB; GOSR2; GOT1; GP1BA; GP1BB; GP6; GP9; GPC3; GPC6; GPD1; GPD1L; GPHN; GPI; GPR143; GPR179; GPSM2; GPX1; GRHL2; GRHPR; GRIA3; GRIK2; GRIN1; GRIN2A; GRIN2B; GRIP1; GRK1; GRM1; GRM6; GRN; GRXCR1; GSN; GSR; GSS; GTF2H5; GUCA1A; GUCA1B; GUCY2C; GUCY2D; GUSB; GYG1; GYS1; GYS2; H6PD; HACE1; HADH; HADHA; HADHB; HAGH; HAMP; HARS; HARS2; HAX1; HBA1; HBA2; HBB; HBD; HBEGF; HBG1; HBG2; HCCS; HCF2; HCFC1; HCN4; HCRT; HDAC8; HEPACAM; HES7; HESX1; HEXA; HEXB; HF1; HFE; HGD; HGF; HGSNAT; HIBCH; HINT1; HIP1; HIVEP2; HK1; HLA-DQB1; HLA-DRB1; HLA-G; HLCS; HMBS; HMGA1; HMGA2; HMGCL; HMGCS2; HMOX1; HMX1; HNF1A; HNF1B; HNF4A; HOGA1; HOXA1; HOXA11; HOXA13; HOXA2; HOXB1; HOXC13; HOXD10; HOXD13; HPD; HPGD; HPRT1; HPS1; HPS3; HPS4; HPS5; HPS6; HPSE2; HR; HRAS; HRG; HS6ST1; HSD11B1; HSD11B2; HSD17B10; HSD17B3; HSD17B4; HSD3B2; HSD3B7; HSF4; HSPB1; HSPB3; HSPB8; HSPD1; HSPG2; HTR1A; HTRA1; HTRA2; HTT; HUWE1; HVEC; HYAL1; HYDIN; HYLS1; ICAM1; ICK; ICOS; IDH2; IDH3B; IDS; IDUA; IER3IP1; IFITM5; IFNAR2; IFNG; IFNGR1; IFNGR2; IFT122; IFT140; IFT43; IFT80; IGBP1; IGF1; IGF1R; IGF2; IGFBP7; IGHMBP2; IGLL1; IGSF1; IHH; IKBKAP; IKBKG; IL10RA; IL11RA; IL12B; IL12RB1; IL17F; IL17RA; IL1RAPL1; IL1RN; IL21R; IL2RA; IL2RG; IL31RA; IL36RN; IL4R; IL6; IL7R; ILDR1; IMPAD1; IMPDH1; IMPG2; INF2; ING1; INPP5E; INS; INSL3; INSR; INVS; IQCB1; IQSEC2; IRAK4; IRF1; IRF4; IRF6; IRF8; IRGM; IRX5; ISCA2; ISCU; ISPD; ITCH; ITGA2; ITGA2B; ITGA3; ITGA6; ITGA7; ITGAM; ITGB2; ITGB3; ITGB4; ITK; ITM2B; ITPR1; IVD; IYD; JAG1; JAK2; JAK3; JAM3; JPH2; JPH3; JUP; KANK1; KANSL1; KARS; KAT6B; KBTBD13; KCNA1; KCNA5; KCNC3; KCNE1; KCNE2; KCNE3; KCNH2; KCNJ1; KCNJ10; KCNJ11; KCNJ13; KCNJ2; KCNJ5; KCNK9; KCNMA1; KCNQ1; KCNQ1OT1; KCNQ2; KCNQ3; KCNQ4; KCNT1; KCNV2; KCTD7; KDM5C; KDM6A; KDR; KERA; KHDC3L; KIAA0196; KIAA1279; KIAA2022; KIF11; KIF1A; KIF1B; KIF21A; KIF22; KIF4A; KIF5A; KIF5C; KIF7; KIND3; KIRREL3; KISS1; KISS1R; KIT; KITLG; KL; KLF1; KLF11; KLF6; KLHDC8B; KLHL15; KLHL3; KLHL41; KLHL7; KLK4; KLKB1; KMT2A; KMT2D; KRAS; KRT1; KRT10; KRT12; KRT13; KRT14; KRT16; KRT17; KRT2; KRT3; KRT4; KRT5; KRT6A; KRT6B; KRT6C; KRT71; KRT74; KRT8; KRT81; KRT83; KRT85; KRT86; KRT9; L1CAM; L2HGDH; LAMA1; LAMA2; LAMA3; LAMA4; LAMB1; LAMB2; LAMB3; LAMC2; LAMC3; LAMP2; LAMTOR2; LARGE; LARP7; LBN; LBR; LCA5; LCAT; LCT; LDB3; LDHA; LDHB; LDLR; LDLRAP1; LEMD3; LEP; LEPR; LFNG; LGI1; LHB; LHCGR; LHFPL5; LHX3; LHX4; LIAS; LIFR; LIG4; LIPA; LIPC; LIPH; LIPN; LITAF; LMAN1; LMAN2L; LMBR1; LMBRD1; LMF1; LMNA; LMNB1; LMX1B; LOR; LOXHD1; LPA; LPAR6; LPIN1; LPIN2; LPL; LPP; LRAT; LRBA; LRP1; LRP2; LRP4; LRP5; LRPPRC; LRRC6; LRRC8A; LRRK2; LRSAM1; LRTOMT; LTBP2; LTBP3; LTBP4; LTC4S; LYL1; LYST; LYZ; LZTFL1; LZTS1; MAD1L1; MADH4; MADH9; MAF; MAFB; MAGEL2; MAGT1; MAK; MAMLD1; MAN1B1; MAN2B1; MANBA; MAOA; MAP2K1; MAP2K2; MAP3K1; MAP3K8; MAPRE2; MAPT; MARVELD2; MASP1; MASP2; MASTL; MAT1A; MATN3; MATR3; MBD5; MBTPS2; MC1R; MC2R; MC4R; MCCC1; MCCC2; MCEE; MCFD2; MCM4; MCM6; MCOLN1; MCPH1; MECP2; MED12; MED13L; MED17; MED23; MED25; MEF2C; MEFV; MEGF10; MEN1; MERTK; MESP2; MET; MFN2; MFRP; MFSD8; MGAT2; MGP; MIB1; MID1; MIF; MINPP1; MITF; MKKS; MKS1; MLC1; MLF1; MLH1; MLH3; MLPH; MLYCD; MMAA; MMAB; MMACHC; MMP1; MMP13; MMP2; MMP20; MMP9; MN1; MNX1; MOCS1; MOCS2; MOG; MOGS; MPDU1; MPI; MPL; MPLKIP; MPO; MPV17; MPZ; MR1; MRAP; MRE11A; MRPL3; MRPS16; MRPS22; MS4A1; MS4A2; MSH2; MSH6; MSR1; MSRB3; MSX1; MSX2; MTAP; MTFMT; MTHFR; MTM1; MTMR2; MTO1; MTPAP; MTR; MTRR; MUSK; MUT; MUTYH; MVK; MYB; MYBPC1; MYBPC3; MYC; MYCN; MYD88; MYF6; MYH11; MYH14; MYH2; MYH3; MYH6; MYH7; MYH8; MYH9; MYL2; MYL3; MYLK; MYLK2; MYO15A; MYO1E; MYO3A; MYO5A; MYO5B; MYO6; MYO7A; MYOC; MYOT; MYOZ2; MYPN; MYT1L; NAA10; NAGA; NAGLU; NAGS; NAT8L; NBAS; NBEAL2; NBN; NCF1; NCF2; NCF4; NCSTN; NDE1; NDN; NDP; NDRG1; NDST1; NDUFA1; NDUFA10; NDUFA11; NDUFA12; NDUFA2; NDUFA9; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFAF5; NDUFAF6; NDUFB3; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS6; NDUFS7; NDUFS8; NDUFV1; NDUFV2; NEB; NEFL; NEK1; NEK8; NEU1; NEUROD1; NEUROG3; NEXN; NF1; NF2; NFIX; NFKBIA; NFU1; NGF; NHEJ1; NHLRC1; NHS; NIN; NIPA1; NIPAL4; NIPBL; NKX2-1; NKX2-5; NKX2-6; NKX3-2; NLGN3; NLRP1; NLRP12; NLRP3; NME1; NME8; NMNAT1; NNT; NOBOX; NOD2; NODAL; NOG; NOL3; NOLA2; NOLA3; NOP56; NOTCH1; NOTCH2; NOTCH3; NPC1; NPC2; NPHP1; NPHP3; NPHP4; NPHS1; NPM1; NPPA; NPR2; NR0B2; NR2E3; NR3C1; NR3C2; NR5A1; NRAS; NRL; NRXN1; NSD1; NSDHL; NSMF; NSUN2; NT5C3A; NT5E; NTF4 ; NTRK1; NTRK2; NUBPL; NUP214; NUP62; NYX; OAT; OBSL1; OCA2; OCLN; OCRL; OFD1; OGDH; OGG1; OPA1; OPA3; OPHN1; OPLAH; OPN1LW; OPN1MW; OPN1SW; OPTN; ORAI1; ORC1; ORC4; ORC6; OSMR; OSTM1; OTC; OTOA; OTOF; OTOG; OTOGL; OTX2; OXCT1; P2RY12; P3H1; P3H2; P4HB; PABPN1; PAFAH1B1; PAH; PAI1; PAK3; PALB2; PANK2; PAPSS2; PAX2; PAX3; PAX4; PAX6; PAX7; PAX8; PAX9; PBX1; PC; PCBD1; PCCA; PCCB; PCDH15; PCDH19; PCK1; PCK2; PCNT; PCSK1; PCSK9; PDCD10; PDCN; PDE11A; PDE4D; PDE6A; PDE6B; PDE6C; PDE6G; PDE6H; PDE8B; PDGFB; PDGFRA; PDGFRB; PDGFRL; PDHA1; PDHB; PDP1; PDSS1; PDSS2; PDX1; PDYN; PDZD7; PEPD; PER2; PEX1; PEX10; PEX11B; PEX12; PEX13; PEX14; PEX16; PEX19; PEX2; PEX26; PEX3; PEX5; PEX6; PEX7; PFKM; PFN1; PGAM2; PGK1; PGM1; PGN; PGR; PHB; PHEX; PHF6; PHF8; PHF9; PHGDH; PHKA1; PHKA2; PHKB; PHKG2; PHOX2A; PHYH; PI4KA; PICALM; PIGA; PIGL; PIGM; PIGN; PIGO; PIGV; PIK3CA; PIK3R2; PIKFYVE; PINK1; PIP5K1C; PITPNM3; PITX1; PITX2; PITX3; PJVK; PKD1; PKD2; PKLR; PKP1; PKP2; PLA2G5; PLA2G6; PLA2G7; PLAG1; PLAT; PLAU; PLCB1; PLCB4; PLCD1; PLCE1; PLCG2; PLEC1; PLEKHG5; PLEKHM1; PLG; PLI; PLIN1; PLN; PLOD1; PLOD2; PLOD3; PLP1; PML; PMM2; PMP22; PMPCA; PMS2; PMX2B; PNKP; PNLIP; PNP; PNPLA1; PNPLA2; PNPLA6; PNPO; PNPT1; POC1A; POLA1; POLG; POLG2; POLH; POLR1C; POLR1D; POLR3A; POLR3B; POMC; POMGNT1; POMGNT2; POMP; POMT1; POMT2; PON1; POR; PORCN; POU1F1; POU3F4; POU4F3; POU6F2; PPARG; PPIB; PPM1D; PPOX; PPP1R3A; PPP2R1B; PPP2R2B; PPP2R5D; PPT1; PQBP1; PRCC; PRCD; PRDM5; PRF1; PRG4; PRICKLE1; PRKAG2; PRKAR1A; PRKCA; PRKCG; PRKCSH; PRKDC; PRKN; PRKRA; PRNP; PROC; PRODH; PROK2; PROKR2; PROM1; PROP1; PROS1; PRPF3; PRPF31; PRPF6; PRPF8; PRPH2; PRPS1; PRRT2; PRRX1; PRSS1; PRSS12; PRSS56; PRX; PSAP; PSAT1; PSEN1; PSEN2; PSENEN; PSMB8; PSMC3IP; PSPH; PSTPIP1; PTCH1; PTCH2; PTCHD1; PTEN; PTF1A; PTGIS; PTH; PTHB1; PTHLH; PTPN11; PTPN14; PTPRC; PTPRJ; PTPRO; PTPRQ; PTRF; PTS; PUS1; PUS3; PVRL4; PYCR1; PYGL; PYGM; QDPR; RAB18; RAB23; RAB27A; RAB39B; RAB3GAP1; RAB3GAP2; RAC2; RAD21; RAD50; RAD51C; RAD54L; RAF1; RAG1; RAG2; RAI1; RANBP2; RAPSN; RARA; RARS2; RASA1; RASSF1; RAX; RAX2; RB1; RB1CC1; RBBP8; RBM10; RBM20; RBM28; RBM8A; RBP3; RBP4; RBPJ; RD3; RDH12; RDH5; RDX; RECQL2; RECQL3; RECQL4; REEP1; RELN; REN; RET; RFT1; RFX5; RFX6; RFXANK; RFXAP; RGR; RGS9; RGS9BP; RHAG; RHBDF2; RHCE; RHD; RHO; RIMS1; RIN2; RIPK4; RLBP1; RLIM; RMND1; RNASEH2A; RNASEH2B; RNASEH2C; RNASEL; RNASET2; RNF135; RNF139; RNF168; RNF170; RNF212; RNF213; RNF6; ROBO2; ROBO3; ROGDI; ROM1; ROR2; RP1; RP1L1; RP2; RP9; RPE65; RPGR; RPGRIP1; RPGRIP1L; RPIA; RPL10; RPL11; RPL21; RPL26; RPL35A; RPL5; RPS10; RPS14; RPS17; RPS19; RPS24; RPS26; RPS6KA3; RPS7; RPSA; RRM2B; RS1; RSPH4A; RSPH9; RSPO1; RSPO4; RTN2; RTTN; RUBCN; RUNX1; RUNX2; RYR1; RYR2; SACS; SAG; SALL1; SALL4; SAMD9; SAMHD1; SANS; SAR1B; SARS2; SATB2; SBDS; SBF2; SCARB2; SCARF2; SCN1A; SCN1B; SCN2A; SCN2B; SCN3B; SCN4A; SCN4B; SCN5A; SCN8A; SCN9A; SCNN1A; SCNN1B; SCNN1G; SCO1; SCO2; SCP2; SDCCAG8; SDHA; SDHAF1; SDHAF2; SDHB; SDHC; SDHD; SEC23A; SEC23B; SEC63; SECISBP2; SEMA3A; SEMA3E; SEMA4A; SEPN1; SEPSECS; SEPT12; SEPT9; SERAC1; SERPINA1; SERPINA7; SERPINB6; SERPINC1; SERPINF1; SERPINH1; SERPINI1; SETBP1; SETD5; SETX; SF3B1; SF3B4; SFTPA1; SFTPA2; SFTPB; SFTPC; SGCA; SGCB; SGCD; SGCE; SGCG; SGSH; SH2B3; SH2D1A; SH3BP2; SH3GL1; SH3PXD2B; SH3TC2; SHANK2; SHANK3; SHFM1; SHH; SHOC2; SHOX; SHROOM4; SI; SIGMAR1; SIL1; SIM1; SIX1; SIX3; SIX5; SIX6; SKI; SKIV2L; SLC10A2; SLC11A2; SLC12A1; SLC12A3; SLC12A6; SLC16A1; SLC16A12; SLC16A2; SLC17A5; SLC17A8; SLC19A2; SLC19A3; SLC1A1; SLC1A3; SLC20A2; SLC22A12; SLC22A4; SLC22A5; SLC24A1; SLC25A12; SLC25A13; SLC25A15; SLC25A19; SLC25A20; SLC25A22; SLC25A3; SLC25A38; SLC25A4; SLC26A1; SLC26A2; SLC26A3; SLC26A4; SLC26A5; SLC27A4; SLC29A3; SLC2A1; SLC2A10; SLC2A2; SLC2A9; SLC30A10; SLC30A2; SLC33A1; SLC34A1; SLC34A2; SLC34A3; SLC35A1; SLC35C1; SLC35D1; SLC36A2; SLC37A4; SLC39A13; SLC39A4; SLC3A1; SLC40A1; SLC45A2; SLC46A1; SLC4A1; SLC4A11; SLC4A4; SLC52A2; SLC52A3; SLC5A1; SLC5A2; SLC5A5; SLC5A7; SLC6A1; SLC6A17; SLC6A19; SLC6A2; SLC6A20; SLC6A3; SLC6A4; SLC6A5; SLC6A8; SLC7A7; SLC7A9; SLC9A3R1; SLC9A6; SLCO1B1; SLCO1B3; SLCO2A1; SLITRK1; SLURP1; SLX4; SMAC; SMAD3; SMAD6; SMARCA2; SMARCA4; SMARCAD1; SMARCAL1; SMARCB1; SMARCE1; SMC3; SMN1; SMN2; SMOC1; SMOC2; SMPD1; SMPX; SNAI2; SNAP29; SNCA; SNCB; SNIP1; SNRNP200; SNRPN; SNTA1; SOBP; SOD1; SOS1; SOST; SOX10; SOX17; SOX18; SOX2; SOX3; SOX9; SP110; SP7; SPAST; SPATA16; SPATA7; SPECC1L; SPG11; SPG20; SPINK1; SPINK5; SPINT2; SPR; SPRED1; SPTA1; SPTAN1; SPTB; SPTBN2; SPTLC1; SPTLC2; SQSTM1; SRCAP; SRD5A2; SRD5A3; SRP72; SRPX2; SRY; SSTR5; ST14; ST3GAL3; STAR; STAT1; STAT3; STAT5B; STIL; STIM1; STK11; STK4; STOX1; STRA6; STRADA; STRC; STS; STX11; STX16; STXBP1; STXBP2; SUCLA2; SUCLG1; SUFU; SUMF1; SUMO1; SUOX; SURF1; SYCP3; SYN1; SYNE1; SYNE2; SYNGAP1; SYP; SYT14; TAB2; TAC3; TACR3; TACSTD2; TAF1; TAF15; TAF2; TAF6; TAL1; TALDO1; TAP1; TAP2; TAPBP; TARDBP; TAT; TAZ; TBC1D24; TBCD; TBCE; TBCK; TBP; TBX1; TBX15; TBX19; TBX20; TBX21; TBX22; TBX3; TBX4; TBX5; TBXAS1; TCAP; TCF4; TCF7L2; TCIRG1; TCL1A; TCN2; TCOF1; TCTN2; TCTN3; TDGF1; TDP1; TDRD7; TEAD1; TECR; TECTA; TEK; TERT; TET2; TF; TFAP2A; TFAP2B; TFE3; TFG; TFR2; TG; TGFB1; TGFB2; TGFB3; TGFBI; TGFBR1; TGFBR2; TGM1; TGM5; TGM6; TH; THAP1; THBD; THOC2; THPO; THRA; THRB; TICAM1; TIMM8A; TIMP3; TINF2; TJP2; TK2; TLL1; TLR3; TMC1; TMC6; TMC8; TMCO1; TMEM126A; TMEM138; TMEM165; TMEM216; TMEM231; TMEM237; TMEM43; TMEM5; TMEM67; TMEM70; TMIE; TMLHE; TMPO; TMPRSS3; TMPRSS6; TNF; TNFRSF10B; TNFRSF11A; TNFRSF11B; TNFRSF13B; TNFRSF13C; TNFRSF1A; TNFSF11; TNFSF5; TNNC1; TNNI2; TNNI3; TNNT1; TNNT2; TNNT3; TNXB; TOPORS; TP53; TP63; TPI1; TPK1; TPM1; TPM2; TPM3; TPMT; TPO; TPP1; TPRN; TRAPPC2; TRAPPC9; TRDN; TREH; TREM2; TREX1; TRH; TRHR; TRIM32; TRIM37; TRIO; TRIOBP; TRIP11; TRMT10A; TRMU; TRPC6; TRPM1; TRPM4; TRPM6; TRPS1; TRPV3; TRPV4; TSC1; TSC2; TSEN2; TSEN34; TSEN54; TSFM; TSG101; TSHB; TSHR; TSHZ1; TSPAN12; TSPAN7; TSPEAR; TSPYL1; TTBK2; TTC19; TTC21B; TTC37; TTC7A; TTC8; TTI2; TTLL5; TTN; TTPA; TTR; TUBA1A; TUBA8; TUBB1; TUBB2A; TUBB2B; TUBB3; TUBB4A; TUBGCP6; TUFM; TULP1; TUSC3; TWIST1; TWIST2; TYK2; TYMP; TYR; TYROBP; TYRP1; UBA1; UBA5; UBB; UBE2A; UBE3A; UBIAD1; UBQLN2; UBR1; UGT1A1; UMOD; UMPS; UNC119; UNC13D; UNC93B1; UNG; UPB1; UPF3B; UQCRB; UQCRQ; UROC1; UROD; UROS; USH1C; USH2A; USP27X; USP9Y; UVSSA; VANGL1; VAPB; VAX1; VCAN; VCL; VCP; VDR; VHL; VIPAS39; VKORC1; VLDLR; VMA21; VPS13A; VPS13B; VPS33B; VPS35; VPS37A; VRK1; VSX1; VWF; WAC; WAS; WDPCP; WDR11; WDR19; WDR35; WDR36; WDR62; WDR72; WDR81; WFS1; WHRN; WHSC1L1; WIPF1; WISP3; WNK1; WNK4; WNT10A; WNT10B; WNT3; WNT4; WNT5A; WNT7A; WRAP53; WT1; WWOX; XDH; XIAP; XK; XPA; XPC; XPNPEP2; XPNPEP3; XRCC9; YARS; YARS2; ZAP70; ZBTB16; ZBTB18; ZBTB24; ZC3H14; ZC4H2; ZDHHC15; ZDHHC9; ZEB1; ZEB2; ZFHX4; ZFP57; ZFPM2; ZFYVE26; ZFYVE27; ZIC2; ZIC3; ZMPSTE24; ZNF141; ZNF423; ZNF469; ZNF513; ZNF644; ZNF711; ZNF750; ZNF81; 

Material

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


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