Genes Analisados: 411
ACTB ACTL6B ACY1 ADGRL1 ADNP ADSL AHDC1 AHI1 ALDH1A3 ALDH5A1 ALG6 ANKRD11 ANKRD17 ANKS1B AP1S2 ARHGEF9 ARID1B ARID2 ARX ASXL3 ATP1A1 ATP1A3 ATP2B1 BCL11A BCORL1 BICRA BRAF BRSK2 BRWD3 C12orf57 CACNA1A CACNA1C CAMK2A CAMK2B CAMK2D CBX1 CCNK CDH2 CDK13 CDK19 CDK8 CDKL5 CELF2 CEP290 CERT1 CHAMP1 CHD1 CHD2 CHD3 CHD7 CHD8 CHKB CLCN4 CNKSR2 CNOT1 CNOT3 CNTNAP2 CREBBP CSDE1 CSNK1G1 CSNK2A1 CSNK2B CTCF CTNNA2 CTR9 CUX2 CYP27A1 DDX23 DDX3X DEAF1 DEPDC5 DHCR7 DHX30 DHX9 DLL1 DMD DMPK DNMT3A DOLK DYRK1A EBF3 EEF1A2 EHMT1 ELP2 EP300 FBRSL1 FBXO11 FGF13 FMR1 FOXG1 FOXP1 FRMPD4 GABBR2 GABRA3 FRMD5 FRYL GALNT2 GATM GNAI1 GNB2 GRIA3 H1-4 H4C11 H4C3 H4C5 HCFC1 HDAC4 HDAC8 HEPACAM HERC1 HERC2 HIVEP2 HNRNPD HNRNPK HNRNPR HNRNPU HNRNPUL2 HOXA1 HUWE1 INTS1 IQSEC2 IRF2BPL KANSL1 KAT6A KCNB1 KDM3B KIF1A KIF5C KMT2A KMT2C KMT2E KPTN LNPK MACF1 MAGEL2 MBD5 MBOAT7 MECP2 MED12L MED13 MED13L MEF2C MEIS2 MSL3 MSX2 MTOR MTSS2 NAA10 NAA15 NACC1 NBEA NF1 NFIB NFIX NIPBL NOVA2 NR2F1 NR3C2 NSD1 NSD2 NTNG1 NTNG2 NTRK2 OCRL PABPC1 PACS1 PACS2 PAK1 PAX6 PCCA PCCB PCDH19 PDZD8 PHF21A PHF8 PHIP PIK3R2 PJA1 POGZ POLR2A POLR3A POMGNT1 POU3F3 PPM1D PPFIA3 PPP2CA PPP2R5D PPP3CA PRKD1 PRODH PRPF8 PRR12 PSMD12 PTEN PTPN11 PTPN4 RAC1 RAD21 RAI1 RALA RERE RFX4 RFX7 RHEB RIMS2 RLIM RNF135 RORA RORB RPS6KA3 RSRC1 SATB1 SATB2 SCAF4 SCN1A SETD1A SETD1B SETD5 SGSH SHANK3 SIK1 SIN3A SIN3B SLC45A1 SLC6A1 SLC9A6 SLITRK2 SMARCAL1 SMARCA2 SMARCC2 SMC1A SMC3 SNX14 SON SOX5 SOX6 SPTBN1 SRRM2 SRSF1 STAG1 STXBP1 SUPT16H SYNGAP1 SYT1 TAF1 TAF4 TANC2 TAOK1 TBC1D23 TBCK TBX1 TCEAL1 TCF20 TCF4 TET3 TFE3 TLK2 TM4SF20 TRAF7 TRAPPC6B TRIM8 TRIP12 TRPM3 TRRAP TSC1 TSC2 TTI2 TTI2 TTN UBE3A UNC13A UPF3B USP7 USP9X VAMP2 VPS13B WAC WASF1 WDR26 WDR5 XPC YWHAG YY1 ZBTB18 ZBTB20 ZBTB7A ZMIZ1 ZMYM2 ZMYM3 ZMYND8 ZNF292 ZNF462 ZFHX3 ZFX ZSWIM6 ABCE1 AFF2 ANK2 ANK3 ANP32A AP2S1 ARF3 ASH1L ATRX AUTS2 BAZ2B BCKDK CACNA1E CACNA2D3 CAMTA2 CAPRIN1 CASK CASZ1 CELF4 CIC CORO1A CPSF7 CTNNB1 CUL3 DIP2A DLG4 DPYSL2 DSCAM DYNC1H1 EIF3G ELAVL3 FOXP2 GABRB2 GABRB3 GFAP GIGYF1 GIGYF2 GRIA2 GRIN1 GRIN2A GRIN2B HDLBP HECTD4 HNRNPH2 HRAS KATNAL2 KCNQ3 KDM2B KDM5B KDM5C KDM6B KIAA0232 KLHL20 KMT5B LDB1 LRRC4C LZTR1 MAP1A MAGEC3 MKX MYCBP2 MYT1L NCKAP1 NCOA1 NEXMIF NLGN2 NLGN3 NLGN4X NR4A2 NRXN1 NRXN2 NRXN3 NUP155 PAH PAX5 PHF12 PHF2 PHF3 PPP1R9B PPP5C PRR14L PSMD11 PSMD6 PTCHD1 PTK7 RALGAPB RELN RFX3 RIMS1 RUNX1T1 SCN2A SCN8A SETBP1 SETD2 SHANK2 SKI SMARCA4 SOS2 SPAST SRCAP SRPRA SYN1 TBCEL TBL1XR1 TBR1 TCF7L2 TEK TLE3 TM9SF4 TRIM23 TRIO TSHZ1 TSHZ3 UBAP2L UBR1 VEZF1 WDFY3 ZBTB21
Painel de Autismo
Neurologia
Nesta análise, utilizando a técnica de NGS, realizamos o sequenciamento de DNA das regiões que codificam proteínas (éxons) e das regiões circundantes relevantes
aos éxons (regiões flanqueadoras) dentro do gene. Adicionalmente, é possível identificar variações no número de cópias (CNV) em 44 genes associados ao Autismo.
Preparo para coleta:
Realizar a higiene bucal e coletar após 30 minutos de jejum.
Instruções de coleta:
• Coloque o swab dentro do tubo e feche bem a tampa;
• Coloque o tubo de coleta na embalagem plástica e guarde-o na caixa junto com os documentos preenchidos;
