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

AHDC1, ANKRD11, ARID1A, ARID1B, ARID2, ASH1L, AUTS2, CACNG2, CAMK2A, CAMK2B, CDH15, CERT1, CHAMP1, CIC, CLTC, CTCF, DEAF1, DPF2, DPP6, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPB41L1, GATAD2B, GNB1, GRIN2B [...] DYRK1A, EEF1A2, EFHC1, FGF12, FOLR1, FOXG1, FRRS1L, GABRA1, GABRB1, GABRB2, GABRB3, GAL, GAMT, GCSH, GLDC, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, IQSEC2, ITPA, JRK, KCNA2, KCNB1, KCNH1, KCNJ10 [...] KANSL1, KAT6A, KCNQ5, KIF1A, KMT5B, MBD5, MED13L, MEF2C, MYT1L, NAA15, NUS1, PACS1, POGZ, PPP2R1A, PPP2R5D, PURA, RAC1, SATB2, SET, SETBP1, SETD5, SMARCA4, SMARCB1, SMARCC2, SMARCE1, STAG1, TBL1XR1, TLK2