• X-Linked Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 112 Genes + Fragile X Repeat Expansion & Methylation)

    ABCD1 (300371), ACSL4 (300157), AFF2 (300806), AIFM1 (300169), AP1S2 (300629), ARHGEF6 (300267), ARHGEF9 (300429), ARSE (300180), ARX (300382), ATP6AP2 (300556), ATP7A (300011), ATRX (300032), BCOR (300485), BRWD3 (300553), CASK (300172), CCDC22 (300859), CDKL5 (300203), CLCN4 (302910), CLIC2 (300138), CNKSR2 (300724), COX7B (300885), CUL4B (300304), DCX (300121), DKC1 (300126), DLG3 (300189), EBP (300205), FGD1 (300546), FLNA (300017), FMR1 (309550), FRMPD4 (300838), FTSJ1 (300499), GDI1 (300104), GK (300474), GPC3 (300037), GRIA3 (305915), HCCS (300056), HCFC1 (300019), HDAC8 (300269), HMGB3 (300193), HNRNPH2 (300610), HPRT1 (308000), HSD17B10 (300256), HUWE1 (300697), IDS (300823), IGBP1 (300139), IL1RAPL1 (300206), IQSEC2 (300522), KDM5C (314690), KDM6A (300128), KIAA2022 (300524), KIF4A (300521), L1CAM (308840), LAMP2 (309060), MAOA (309850), MBTPS2 (300294), MECP2 (300005), MED12 (300188), MID1 (300552), MID2 (300204), NAA10 (300013), NDP (300658), NDUFA1 (300078), NHS (300457), NLGN3 (300336), NLGN4X (300427), NSDHL (300275), OCRL (300535), OFD1 (300170), OPHN1 (300127), OTC (300461), PAK3 (300142), PCDH19 (300460), PDHA1 (300502), PGK1 (311800), PHF6 (300414), PHF8 (300560), PIGA (311770), PLP1 (300401), PORCN (300651), PQBP1 (300463), PRPS1 (311850), PTCHD1 (300828), RAB39B (300774), RBM10 (300080), RLIM (300379), RPL10 (312173), RPS6KA3 (300075), SHROOM4 (300579), SLC16A2 (300095), SLC35A2 (314375), SLC6A8 (300036), SLC9A6 (300231), SMC1A (300040), SMS (300105), SOX3 (313430), SRPX2 (300642), SSR4 (300090), SYN1 (313440), SYP (313475), TAF1 (313650), TIMM8A (300356), TMLHE (300777), TSPAN7 (300096), UBE2A (312180), UPF3B (300298), USP27X (300975), USP9X (300072), WDR45 (300526), ZC4H2 (300897), ZDHHC15 (300576), ZDHHC9 (300646), ZNF711 (314990).