DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPB41L1, GATAD2B, GNB1, GRIN2B, HIVEP2, KANSL1, KAT6A, KCNQ2, KCNQ5, KIF1A, KMT5B, MBD5, MED13L, MEF2C, MYT1L, NAA15, NUS1, PACS1, POGZ, PPP2R1A, PPP2R5D, PURA, RAC1, SATB2 [...] Gene CTNNB1, KCNQ2, SCN2A, STXBP1, SYNGAP1 Erweitertes Panel ADNP, AHDC1, ANKRD11, ARID1A, ARID1B, ARID2, ASH1L, AUTS2, CACNG2, CAMK2A, CAMK2B, CDH15, CERT1, CHAMP1, CIC, CLTC, CTCF, CTNNB1, DEAF1, DPF2, [...] SATB2, SCN2A, SET, SETBP1, SETD5, SMARCA4, SMARCB1, SMARCC2, SMARCE1, STAG1, STXBP1, SYNGAP1, TBL1XR1, TLK2, TRIO, TRIP12, ZBTB18, ZMYND11 EDTA-Blut: 1-2 ml NGS und ggf. MLPA Für einzelne Gene/Genbereiche

ARX, CDKL5, EHMT1, FOXG1, MECP2, MEF2C, SLC9A6, SYNGAP1, TCF4, UBE3A, ZEB2 EDTA-Blut: 1-2 ml NGS und ggf. MLPA Für einzelne Gene/Genbereiche kann die Analyse mittels Sanger-Sequenzierung erfolgen. EBM

SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC13A5, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, SRPX2, ST3GAL3, STX1B, STXBP1, SYNGAP1, SZT2 [...] DDX3X, DEPDC5, DNM1, DOCK7, DYRK1A, EEF1A2, EFHC1, FGF12, FOLR1, FOXG1, FRRS1L, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GAMT, GCSH, GLDC, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, IQSEC2 [...] PCDH19, SCN1A, SCN1B, SCN2A Erweiterte Panel-Diagnostik AARS1, ACY1, ADRA2B, ADSL, ALDH7A1, ALG13, AMT, ANKRD11, ARHGEF9, ARID1B, ARV1, ARX, ASXL3, CACNA1A, CACNA1E, CACNA1H, CACNB4, CDKL5, CERT1, CHD2, CHRNA2