SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS)
GENES ANALISADOS
ACSL4, ADNP, ADSL, AFF2, AHDC1, AHI1, ALDH5A1, ANK2, ANK3, ANKRD11, AP1S2, AP4B1, AP4M1, ARHGEF9, ARID1A, ARID1B, ARX, ASXL1, ASXL2, ATP1A3, ATP6AP2, ATRX, AUTS2, BCL11A, BDNF, BRAF, BRD4, BRSK2, BRWD3, C12orf57, CACNA1A, CACNA1C, CACNA1D, CACNA2D3, CAMK2A, CAMK2B, CASK, CC2D1A, CDK13, CDKL5, CHAMP1, CHD2, CHD3, CHD7, CHD8, CIC, CLCN4, CNKSR2, CNOT3, CNTN4, CNTNAP2, CRADD, CRBN, CREBBP, CSNK2A1, CTCF, CTNNB1, CUL3, CUL4B, DDX3X, DEAF1, DHCR7, DLGAP2, DLG3, DMD, DNMT3A, DYRK1A, EHMT1, EIF2S3, EP300, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FRMPD4, FTSJ1, GABRB3, GATAD2B, GATM, GDI1, GNAI1, GPC3, GRIA3, GRIK2, GRIN2B, HCN1, HDAC4, HDAC8, HEPACAM, HERC2, HNRNPK, HNRNPU, HOXA1, HPRT1, HUWE1, IL1RAPL1, IQSEC2, KANSL1, KAT6A, KAT6B, KATNAL2, KCNH1, KDM5B, KDM5C, KDM6A, KDM6B, KIF1A, KIRREL3, KMT2C, KMT2D, KMT5B (SUV420H1), L1CAM, MAGEL2, MAN1B1, MAOA, MBD5, MECP2, MED12, MED13, MED13L, MED23, MEF2C, MEIS2, MID1, MSL3, MYT1L, NAA10, NBEA, NDP, NEXMIF (KIAA2022), NF1, NFIX, NHS, NIPBL, NLGN3, NLGN4X, NR2F1, NR4A2, NRXN1, NSD1, NSD2 (WHSC1), NSUN2, NTNG1, OCRL, OFD1, OPHN1, PACS1, PAFAH1B1, PAK3, PCDH19, PHF3, PHF6, PHF8, PHIP, PIK3R2, PLP1, PNKP, POGZ, PPM1D, PPP2R5D, PQBP1, PTCHD1, PTEN, PTPN11, PUF60, RAB39B, RAD21, RAI1, RBFOX1, RELN, RIMS1, RORA, RPL10, RPS6KA3, SATB2, SCN1A, SCN2A, SET, SETBP1, SETD2, SHANK2, SHANK3, SLC16A2, SLC6A1, SLC9A6, SLC9A9, SMARCA2, SMARCA4, SMC1A, SMC3, SMS, SNRPN, SOX5, SRCAP, ST3GAL3, STXBP1, SYN1, SYNGAP1, TAF1, TAOK1, TBC1D23, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TNRC6B, TRAPPC9, TRIO, TRIP12, TSC1, TSC2, TTI2, TUSC3, UBE2A, UBE3A, UPF3B, USP7, VPS13B, WDFY3, YY1, ZBTB18, ZDHHC9, ZEB2, ZNF292 e ZNF711.