Perturbação do desenvolvimento intelectual (painel de 599 genes, incluindo CNVs, NGS e Síndrome de X-Frágil (expansões no gene FMR1))

Código da Análise: 10000
Designação: Perturbação do desenvolvimento intelectual (painel de 599 genes, incluindo CNVs, NGS e Síndrome de X-Frágil (expansões no gene FMR1))
Gene(s): ABAT, ABCD1, ACE, ACSL4, ACTB, ACTG1, ACTN4, ADA, ADAR, ADCY5, ADGRG1, ADK, ADNP, ADSL, AFF2, AHI1, AIMP1, AKAP9, AKT3, ALDH18A1, ALDH5A1, ALDH7A1, ALG11, ALG13, ALX4, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKRD11, AP1S1, AP1S2, AP3B1, AP4B1, AP4M1, ARFGEF2, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARX, ASAH1, ASCL1, ASPM, ASXL1, ASXL3, ATP13A2, ATP1A3, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUTS2, B3GALNT2, B4GAT1, B9D1, B9D2, BBS4, BCAP31, BCKDK, BCOR, BCS1L, BDNF, BLOC1S3, BLOC1S6, BRAF, BRCA2, BRWD3, C12orf57, C12orf65, C19orf12, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1F, CACNA1H, CACNB2, CAMTA1, CARD11, CASK, CBS, CC2D1A, CC2D2A, CCDC40, CCDC88C, CDH15, CDK5RAP2, CDKL5, CDON, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHD2, CHD7, CHD8, CHMP1A, CHRM3, CIB2, CLCN4, CLIC2, CLN8, CNGB3, CNTNAP2, COASY, COL4A1, CPLANE1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSPP1, CTC1, CTNNA3, CTNNB1, CUL3, CUL4B, CUL7, CYB5R3, CYP11B1, CYP27A1, DARS2, DCAF17, DCX, DDC, DDX3X, DHCR7, DKC1, DLG3, DNM1, DOCK8, DPYD, DRD3, DST, DTNBP1, DYM, DYNC1H1, DYRK1A, EDN3, EDNRB, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, ELOVL4, EMX2, EP300, EPB41L1, ESRRB, ETFB, EXOSC3, FAM126A, FANCB, FBN1, FGA, FGD1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR1, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FTL, FTO, FTSJ1, G6PD, GABRB3, GAD1, GAMT, GATM, GCK, GDI1, GDNF, GFAP, GIGYF2, GJC2, GK, GLI2, GLRB, GMPPA, GMPPB, GNAO1, GNAS, GPC3, GPHN, GPT2, GPX1, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HEPACAM, HERC2, HNRNPU, HOXA1, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HSD17B10, HSPD1, HUWE1, HYDIN, IDS, IER3IP1, IFIH1, IGBP1, IGF1, IGF1R, IL1RAPL1, INPP5E, INVS, IQSEC2, IRX5, ITGA7, ITGB3, ITPR1, JAG1, KANK1, KAT6A, KAT6B, KATNB1, KCNB1, KCNC1, KCNC3, KCND3, KCNJ10, KCNK9, KCNMA1, KCNQ2, KCNQ3, KDM5C, KDM6A, KIF11, KIF1A, KIF5C, KIF7, KIRREL3, KMT2A, KMT2C, KMT2D, KNL1, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LEP, LINS1, LMX1B, LRBA, LRP2, LZTR1, MAGEL2, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCCC2, MCM4, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MEF2C, MEGF10, MEIS2, MET, MFRP, MFSD2A, MGAT2, MIB1, MID1, MITF, MKKS, MKS1, MLC1, MPDZ, MSMO1, MTHFR, MTM1, MTOR, MTR, MYCN, MYO5A, NAA10, NAGA, NALCN, NDE1, NDP, NDST1, NDUFA1, NECTIN1, NEXMIF, NF1, NFIX, NHEJ1, NHS, NIPA1, NIPBL, NLGN3, NLGN4X, NOTCH2, NPHP1, NPHP3, NR2F1, NR3C2, NRXN1, NSD1, NSDHL, NSUN2, NTRK1, NXF5, OCLN, OCRL, OFD1, OPHN1, ORC1, OTC, PAFAH1B1, PAH, PAK3, PANK2, PAX3, PAX6, PCDH15, PCDH19, PCNT, PDE6D, PDHA1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PHC1, PHF6, PHF8, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3R2, PITX2, PLA2G6, PLCB1, PLK4, PLN, PLP1, PNKP, POGZ, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POT1, PPOX, PPT1, PQBP1, PRICKLE1, PRKN, PRODH, PRPS1, PRSS12, PTCH1, PTEN, PTPN11, PTPRC, PTS, PURA, PYCR1, PYCR2, QARS1, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAI1, RARS2, RBBP8, RBFOX1, RBM10, RELN, RET, RIMS1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RXYLT1, SALL1, SAMHD1, SASS6, SATB2, SBF1, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO2, SDCCAG8, SDHA, SEPSECS, SETBP1, SETD2, SGCA, SHANK2, SHH, SHROOM4, SIL1, SIX3, SLC12A5, SLC16A2, SLC25A12, SLC25A15, SLC25A19, SLC27A4, SLC2A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SNAI2, SNAP29, SNIP1, SOBP, SOD1, SOX10, SOX2, SOX3, SPAST, SRD5A3, ST3GAL3, STAMBP, STIL, STRA6, STXBP1, SYN1, SYNE1, SYNGAP1, SYNJ1, SYP, TAF2, TAF6, TBC1D20, TBC1D24, TBCE, TBL1XR1, TBX1, TCF4, TCTN1, TCTN2, TCTN3, TECR, TECTA, TFAP2A, TGIF1, THRA, TIMM8A, TINF2, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMLHE, TPO, TRAPPC9, TREX1, TRMT10A, TRPC6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTI2, TTN, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUSC3, TYR, UBE2A, UBE3A, UBR1, UPF3B, USH2A, USP9X, VDR, VLDLR, VPS13B, VPS53, VRK1, WAC, WDR45, WDR62, WDR81, WNT1, WNT5A, WWOX, YWHAE, ZBTB18, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZIC3, ZNF335, ZNF41, ZNF423, ZNF711, ZNF81
Especialidade: Pediatria, Neurologia, Doenças Raras
Método: Sequenciação massiva (NGS)
Condições de Colheita: EDTA: Sangue (10 mL)
Estabilidade da Amostra: Refrigerada a 2-8ºC
Preparação da Colheita: ATENÇÃO: Esta análise só deve ser colhida entre 2ª e 5ª feira e nunca em vésperas de feriado. Indispensavél história clínica e antecedentes familiares.
Prazo Entrega: 33 Dias úteis