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Entwicklungsstörung mit/ohne Epilepsie

Entwicklungsstörung mit/ohne Epilepsie

Entwicklungsstörungen betreffen qualitative und/oder quantitative Einschränkungen einzelner bzw. mehrerer Entwicklungsbereiche oder die gesamten Entwicklung.

Methode

Die Diagnostik bei unspezifischer Entwicklungsstörung umfasst derzeit 1534 Gene, die gesichert mit einer Entwicklungsstörung assoziiert sind. Sie werden parallel mittels Next Generation Sequencing (wenn möglich: Trio-Exom-Sequenzierung unter Einbeziehung der Eltern) untersucht. Die Genliste wird in regelmaßigen Abständen von Prof. Dr. Dr. med. C. Zweier (Universität Bern, CH) aktualisiert und kuratiert (SysID-Database: sysid.cmbi.umcn.nl/). Die Interpretation umfasst einzelne Nukleotidvarianten (single-nucleotide variants, SNVs), kleine Insertionen und Deletionen (INDELs) und Kopienzahlvarianten (copy number variants, CNVs) von einzelnen und / oder mehreren Exons. Für jedes in dem Genset dargestellten Gen analysieren wir alle kodierenden Regionen sowie die angrenzenden intronischen Varianten (mindestens +/- 5bp). Dieses diagnostische Panel deckt über 99,8% der Zielregion mindestens 20x ab.

Liste der analysierten Gene (SysID Datenbank, Stand November 2021)

AARS1, ABCA2, ABCC9, ABCD1, ABCD4, ABHD16A, ABHD5, ACAD9, ACADS, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACY1, ADAR, ADARB1, ADAT3, ADD3, ADGRG1, ADK, ADNP, ADPRS, ADSL, AFF2, AFF4, AGA, AGMO, AGO1, AGO2, AGPAT2, AGPS, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AK1, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG9, ALKBH8, ALS2, AMER1, AMPD2, AMT, ANAPC1, ANK3, ANKH, ANKRD11, ANKRD17, ANKS1B, ANO10, AP1B1, AP1G1, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APTX, ARCN1, ARF1, ARFGEF1, ARFGEF2, ARHGAP32, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARMC9, ARSL, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASXL1, ASXL2, ASXL3, ATAD3A, ATG7, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATP9A, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCS1L, BICRA, BLM, BLOC1S1, BOD1, BOLA3, BPTF, BRAF, BRAT1, BRCA1, BRD4, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BUB1B, C12orf4, C12orf57, C2orf69, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1I, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMK4, CAMTA1, CAPN10, CAPN15, CARS1, CARS2, CASK, CBL, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC174, CCDC22, CCDC32, CCDC47, CCDC82, CCDC88A, CCDC88C, CCND2, CDC42, CDC42BPB, CDH11, CDH2, CDK10, CDK13, CDK19, CDK5RAP2, CDK6, CDK8, CDK9, CDKL5, CDON, CELF2, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP19, CEP290, CEP41, CEP55, CEP57, CEP63, CEP83, CEP85L, CERT1, CHAMP1, CHD1, CHD2, CHD3, CHD4, CHD5, CHD7, CHD8, CHKB, CHMP1A, CIC, CIT, CKAP2L, CLCN2, CLCN3, CLCN4, CLCN6, CLCN7, CLDN11, CLP1, CLPB, CLPP, CLTC, CNKSR1, CNKSR2, CNNM2, CNOT1, CNOT3, CNPY3, CNTNAP1, CNTNAP2, COA8, COASY, COG1, COG5, COG6, COG7, COG8, COL18A1, COL27A1, COL3A1, COL4A1, COL4A2, COLEC11, COLGALT1, COPB1, COPB2, COQ2, COQ4, COQ8A, COX10, COX15, CPE, CPLANE1, CPLX1, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSDE1, CSF1R, CSGALNACT1, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CTBP1, CTCF, CTDP1, CTNNA2, CTNNB1, CTNND1, CTU2, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYFIP2, CYP26B1, CYP27A1, CYP2U1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDB1, DDC, DDHD2, DDOST, DDX23, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHTKD1, DHX30, DIAPH1, DIP2B, DIS3L2, DKC1, DLAT, DLD, DLG3, DLG4, DLL1, DMD, DMPK, DMXL2, DNAJC12, DNAJC19, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK6, DOCK7, DOHH, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPP6, DPYD, DPYSL5, DSCAM, DYM, DYNC1H1, DYNC1I2, DYRK1A, EARS2, EBF3, EBP, ECHS1, EDEM3, EED, EEF1A2, EEF1B2, EFL1, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, EIF5A, ELAC2, ELOVL4, ELP2, EMC1, EMC10, EMG1, EML1, EMX2, ENTPD1, EP300, EPG5, EPRS1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN2, ESCO2, ETHE1, EXOSC2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT2, EXTL3, EZH2, FAM126A, FAM149B1, FAM50A, FANCD2, FAR1, FARS2, FASTKD2, FAT1, FAT4, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO28, FBXO31, FBXW11, FCSK, FDFT1, FEM1B, FGD1, FGF12, FGF13, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FITM2, FKRP, FKTN, FLNA, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXP4, FOXRED1, FRA10AC1, FRAS1, FRMD4A, FRMPD4, FRRS1L, FRY, FTO, FTSJ1, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALE, GALNT2, GALT, GAMT, GAN, GATA6, GATAD2B, GATM, GBA2, GCH1, GCSH, GDF1, GDF11, GDI1, GEMIN4, GEMIN5, GFAP, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLS, GLUL, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB2, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GOLGA2, GOT2, GPAA1, GPC3, GPC4, GPHN, GPT2, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GSS, GSX2, GTF2E2, GTF2H5, GTPBP2, GTPBP3, GUSB, H1-4, H3-3A, H3-3B, H4C3, HACE1, HARS1, HAX1, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HGSNAT, HIBCH, HID1, HIKESHI, HIVEP2, HK1, HLCS, HMGB1, HNMT, HNRNPD, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HOXA1, HPD, HPDL, HPRT1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSPD1, HTRA2, HTT, HUWE1, IARS1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IFT74, IGF1, IGF1R, IKBKG, IL1RAPL1, IMPA1, IMPDH2, INPP4A, INPP5E, INPP5K, INTS1, INTS8, IPO8, IPP, IQSEC1, IQSEC2, IRF2BPL, IRX5, ISCA2, ITCH, ITGAV, ITPA, ITPR1, ITSN1, IVD, JAM2, JAM3, JARID2, KANSL1, KARS1, KAT5, KAT6A, KAT6B, KAT8, KATNAL2, KATNB1, KATNIP, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK4, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD7, KDM1A, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0586, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF21B, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KLHL15, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KPNA7, KPTN, KRAS, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LARS2, LAS1L, LEO1, LIAS, LIG4, LINGO1, LINS1, LIPT2, LMBRD1, LMBRD2, LMNB1, LMNB2, LNPK, LONP1, LRP2, LRPPRC, LSS, LTBP1, LYRM7, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAF, MAG, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAP3K7, MAPK1, MAPK8IP3, MAPKAPK5, MASP1, MAST1, MAST3, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC2, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEGF8, MEIS2, MESD, METTL23, METTL5, MFF, MFSD2A, MGAT2, MGME1, MICOS13, MICU1, MID1, MINPP1, MIR17HG, MKKS, MLC1, MLYCD, MMAA, MMACHC, MMADHC, MMUT, MN1, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPDZ, MPLKIP, MRAS, MRE11, MRPS22, MRPS34, MSL3, MSTO1, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MTFMT, MT-ND5, MTO1, MTOR, MTR, MTRFR, MTRR, MT-TK, MT-TL1, MT-TS1, MT-TV, MVK, MYCN, MYH10, MYO5A, MYT1L, NAA10, NAA15, NAA20, NACC1, NAGA, NAGLU, NALCN, NANS, NAPB, NARS1, NARS2, NAXD, NAXE, NBEA, NBN, NCAPG2, NCDN, NCKAP1, NCOR1, NDE1, NDP, NDST1, NDUFA1, NDUFA11, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NECTIN1, NEDD4L, NEMF, NEU1, NEURL4, NEUROD2, NEUROG1, NEXMIF, NF1, NFASC, NFIA, NFIB, NFIX, NGLY1, NHLRC2, NHS, NIPBL, NKAP, NKX2-1, NKX6-2, NLGN3, NLGN4X, NLRP3, NMNAT1, NONO, NOVA2, NPHP1, NPRL2, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSD2, NSDHL, NSRP1, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUDT2, NUP107, NUP188, NUP214, NUS1, OCLN, OCRL, ODC1, OFD1, OGT, OPHN1, ORC1, OSGEP, OTUD5, OTUD6B, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARP6, PARS2, PAX6, PBX1, PC, PCDH12, PCDH19, PCDHGC4, PCGF2, PCLO, PCNT, PCYT2, PDE2A, PDE4D, PDE6D, PDHA1, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX12, PEX13, PEX26, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM2L1, PGM3, PHF21A, PHF6, PHF8, PHGDH, PHIP, PI4KA, PIBF1, PIDD1, PIEZO2, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3CA, PIK3R1, PIK3R2, PISD, PITRM1, PLA2G6, PLAA, PLCB1, PLCH1, PLEKHG2, PLK4, PLP1, PLPBP, PLXNA1, PLXNA3, PMM2, PMPCA, PMPCB, PNKP, PNP, PNPLA6, PNPO, PNPT1, POC1A, POGZ, POLA1, POLG, POLR1C, POLR2A, POLR3A, POLR3B, POLRMT, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PORCN, POU3F3, POU4F1, PPM1D, PPP1CB, PPP1R12A, PPP1R15B, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PQBP1, PRDM15, PREPL, PRICKLE2, PRKACB, PRKAR1B, PRKCG, PRKRA, PRMT7, PRODH, PRORP, PRPS1, PRR12, PRRT2, PRSS12, PRUNE1, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPN23, PTRH2, PTRHD1, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, QARS1, QRICH1, RAB11A, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RABL6, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RALGAPA1, RAP1GDS1, RARB, RARS1, RARS2, RBBP8, RBL2, RBM10, RBM28, RBPJ, RCBTB1, RELN, RERE, RFT1, RFX3, RFX4, RFX7, RGS6, RHOBTB2, RIC1, RIMS1, RIMS2, RIT1, RLIM, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF220, RNFT2, RNPC3, RNU4ATAC, ROGDI, RORA, RPGRIP1L, RPL10, RPS6KA3, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RUSC2, SALL1, SAMD9, SAMHD1, SASS6, SATB1, SATB2, SBDS, SC5D, SCAF4, SCAMP5, SCAPER, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA6B, SEPSECS, SERAC1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SFXN4, SGPL1, SGSH, SHANK3, SHH, SHMT2, SHOC2, SHROOM4, SIAH1, SIK1, SIL1, SIN3A, SIN3B, SIX3, SKI, SLC12A2, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A2, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A42, SLC2A1, SLC33A1, SLC35A2, SLC35A3, SLC35C1, SLC38A3, SLC39A8, SLC44A1, SLC45A1, SLC46A1, SLC4A4, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLC9A7, SMAD4, SMARCA2, SMARCA4, SMARCA5, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG8, SMG9, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNIP1, SNRPB, SNX14, SNX27, SOBP, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX4, SOX5, SOX6, SPART, SPATA5, SPATA5L1, SPECC1L, SPEN, SPG11, SPOP, SPR, SPRED1, SPRED2, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SRCAP, SRD5A3, SRP54, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STEEP1, STIL, STIM1, STRA6, STRADA, STT3A, STUB1, STX1B, STXBP1, SUCLA2, SUFU, SUOX, SUPT16H, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TAB2, TACO1, TAF1, TAF13, TAF2, TAF6, TANC2, TANGO2, TAOK1, TARS2, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX2, TCF12, TCF20, TCF4, TCF7L2, TCTN2, TCTN3, TDP2, TECPR2, TECR, TELO2, TET3, TFE3, TGIF1, TH, THG1L, THOC2, THOC6, THRA, THRB, TIMM50, TIMM8A, TIMMDC1, TKFC, TKT, TLK2, TM4SF20, TMCO1, TMEM106B, TMEM107, TMEM165, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM240, TMEM63A, TMEM67, TMEM70, TMEM94, TMTC3, TMX2, TNIK, TNPO2, TNR, TNRC6B, TOE1, TOGARAM1, TOP3A, TOR1A, TOR1AIP1, TP53RK, TP73, TPI1, TPK1, TPP2, TPRKB, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2L, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIM32, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM3, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TSPAN7, TSPOAP1, TTC37, TTC5, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUSC3, TWIST1, TWNK, UBA2, UBA5, UBE2A, UBE3A, UBE3B, UBE4A, UBR1, UBR7, UBTF, UFC1, UFM1, UFSP2, UGDH, UGP2, UNC45A, UNC80, UPB1, UPF3B, UQCC2, USP27X, USP7, USP9X, VAC14, VAMP2, VARS1, VARS2, VLDLR, VPS11, VPS13B, VPS13D, VPS16, VPS37A, VPS41, VPS4A, VPS53, VRK1, WAC, WARS2, WASF1, WASHC4, WASHC5, WDFY3, WDR11, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WIPI2, WNT1, WWOX, XPA, XRCC4, XYLT1, YAP1, YARS1, YIF1B, YWHAG, YY1, ZBTB11, ZBTB18, ZBTB20, ZBTB24, ZBTB7A, ZC3H14, ZC4H2, ZDHHC9, ZEB2, ZFHX4, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYM2, ZMYND11, ZNF142, ZNF148, ZNF292, ZNF335, ZNF407, ZNF462, ZNF526, ZNF699, ZNF711, ZNHIT3, ZSWIM6

Material

  • 2,5 – 5 ml EDTA-Blut (bei Kleinkindern ist 1 ml EDTA-Blut ausreichend)
  • Genomische DNA (1-2µg)
  • Die Untersuchung ist nach telefonischer Rücksprache (09131-85 22318/22319) auch an anderem Gewebe möglich

Benötigte Unterlagen

  • Einwilligung des Patienten nach GenDG
  • Anforderungsbogen für die molekulargenetische Diagnostik
  • Überweisungsschein Muster 10
  • Bei stationären/Privat-Patienten: Erklärung zur Kostenübernahme

Dauer der Untersuchung

  • 8 bis 12 Wochen