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 1945 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 (SysNDD-Database: sysndd.dbmr.unibe.ch/). 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 +/- 10bp). Dieses diagnostische Panel deckt über 99% der Zielregion mindestens 20x ab.
Liste der analysierten Gene (SysNDD Datenbank, Stand 12.11.2025)
AARS1, AASS, ABAT, ABCA2, ABCC8, ABCC9, ABCD4, ABHD16A, ABHD5, ABI2, ACAD9, ACADS, ACBD6, ACO2, ACOX1, ACSF3, ACTL6B, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADD3, ADGRG1, ADGRL1, ADK, ADPRS, ADSL, AFF3, AFG2A, AFG2B, AGA, AGMO, AGPAT2, AGPS, AGTPBP1, AHCY, AHI1, AIMP1, AIMP2, AIRIM, AK1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMFR, AMPD2, AMT, ANAPC1, ANK3, ANO10, AP1B1, AP1G1, AP1S1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APTX, ARFGEF2, ARG1, ARL13B, ARL3, ARL6, ARMC9, ARSA, ARV1, ASL, ASNS, ASPA, ASPM, ASS1, ATAD3A, ATG7, ATIC, ATP1A2, ATP2B1, ATP5F1A, ATP5F1E, ATP5PO, ATP6V0A2, ATP6V1A, ATP8A2, ATP9A, ATR, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAS3, BCKDHA, BCKDHB, BCKDK, BCS1L, BHLHE22, BLM, BLOC1S1, BLTP1, BOLA3, BORCS5, BORCS8, BPTF, BRAT1, BRCA1, BRF1, BSCL2, BSN, BTD, BUB1B, BUD13, C12orf57, C2orf69, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CAD, CAMK2A, CAMSAP1, CAPN10, CAPN15, CARS1, CARS2, CASP2, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC174, CCDC186, CCDC32, CCDC47, CCDC82, CCDC88A, CCDC88C, CDH11, CDH2, CDK10, CDK5RAP2, CDK6, CDK9, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP19, CEP290, CEP41, CEP55, CEP57, CEP63, CEP76, CEP83, CHD3, CHKA, CHKB, CHMP1A, CIT, CKAP2L, CLCN2, CLCN3, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CNKSR1, CNNM2, CNPY3, CNTNAP1, CNTNAP2, COA8, COASY, COG1, COG5, COG6, COG7, COG8, COL18A1, COL27A1, COL3A1, COLEC11, COLGALT1, COPB1, COPB2, COQ2, COQ4, COQ7, COQ8A, COX10, COX15, COX6B1, CPE, CPLANE1, CPLX1, CPS1, CPSF3, CRADD, CRBN, CRELD1, CRIPT, CRLS1, CRPPA, CSF1R, CSGALNACT1, CSMD1, CSPP1, CSTB, CTDP1, CTNNA2, CTSA, CTU2, CWC27, CWF19L1, CYB5R3, CYP26B1, CYP27A1, CYP2U1, D2HGDH, DAG1, DAP3, DARS1, DBT, DCAF17, DCHS1, DCPS, DDC, DDHD2, DDOST, DDX59, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHFR, DHPS, DHTKD1, DHX30, DHX37, DIAPH1, DIS3L2, DLAT, DLD, DMXL2, DNAH14, DNAJC12, DNAJC19, DNM1, DNM1L, DNMT3B, DOCK3, DOCK6, DOCK7, DOHH, DONSON, DPAGT1, DPH1, DPH5, DPM1, DPM3, DPYD, DTYMK, DYM, DYNC1I2, EARS2, ECHS1, EDEM3, EEF1B2, EEF1D, EEFSEC, EFL1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EIF4A2, EIF4A3, EIPR1, ELAC2, ELFN1, ELOVL1, ELOVL4, ELP2, EMC1, EMC10, EMG1, EML1, ENTPD1, EP400, EPB41L3, EPG5, EPRS1, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERI1, ERLIN2, ESAM, ESCO2, ETHE1, EXOC7, EXOSC2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT2, EXTL3, EZH1, FA2H, FAM149B1, FAM177A1, FANCD2, FAR1, FARS2, FARSA, FASTKD2, FAT1, FAT4, FBXL3, FBXL4, FBXO11, FBXO22, FCSK, FDFT1, FERRY3, FEZF2, FGFR3, FH, FIBP, FIG4, FILIP1, FITM2, FKRP, FKTN, FLVCR1, FMN2, FOLR1, FOXP4, FOXRED1, FRA10AC1, FRMD4A, FRRS1L, FRY, FUCA1, FUT8, GAD1, GALC, GALNT2, GALT, GAMT, GAN, GATM, GBA2, GCDH, GCH1, GCSH, GDF1, GEMIN4, GEMIN5, GFM1, GFM2, GJC2, GLB1, GLDC, GLIS3, GLUL, GM2A, GMPPA, GMPPB, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GOLGA2, GOT2, GPAA1, GPHN, GPT2, GRIA1, GRID2, GRIK2, GRIN1, GRM1, GRM7, GRN, GSS, GSX2, GTF2E2, GTF2H5, GTF3C3, GTPBP2, GTPBP3, GUSB, HACE1, HAX1, HCN2, HEATR3, HECTD1, HECTD4, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HID1, HIKESHI, HMBS, HMGCL, HNMT, HOXA1, HPCA, HPD, HPDL, HS2ST1, HSD17B4, HTRA2, HTT, HYCC1, HYLS1, IARS1, IDUA, IER3IP1, IFIH1, IFT172, IFT74, IGF1, IGF1R, IMPA1, INPP4A, INPP5E, INPP5K, INSR, INTS1, INTS11, INTU, IPO8, IQSEC1, IRX5, ISCA2, ITCH, ITGAV, ITPA, ITPR1, ITSN1, IVD, JAM2, JAM3, KARS1, KAT8, KATNB1, KATNIP, KCNA1, KCNJ10, KCNMA1, KCTD7, KDM2B, KDM4B, KDM5A, KDM5B, KDM6B, KIAA0586, KIAA0753, KICS2, KIDINS220, KIF14, KIF7, KIFBP, KLHL7, KMT2B, KPNA7, KPTN, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LARGE1, LARP7, LARS2, LETM1, LGI1, LGI3, LIAS, LIG4, LINS1, LIPT2, LMBRD1, LMNB2, LNPK, LONP1, LRP2, LRPPRC, LSM1, LSS, LTBP1, LYRM7, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAN1B1, MAN2B1, MAN2C1, MANBA, MAP1B, MAP3K7, MAPKAPK5, MASP1, MAT1A, MBOAT7, MCCC2, MCM3AP, MCOLN1, MCPH1, MDH2, MED11, MED13L, MED16, MED17, MED23, MED25, MED27, MEGF8, MESD, METTL23, METTL5, MFF, MFSD2A, MFSD8, MGAT2, MGME1, MICOS13, MICU1, MINPP1, MKKS, MLC1, MLYCD, MMAA, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPLKIP, MRE11, MRPL49, MRPS22, MRPS34, MSMO1, MSTO1, MTFMT, MTO1, MTR, MTRFR, MTRR, MTSS2, MVK, MYO5A, NAA20, NAE1, NAGA, NAGLU, NALCN, NANS, NAPB, NARS1, NARS2, NAV3, NAXD, NAXE, NBN, NCAPG2, NDC1, NDE1, NDST1, NDUFA11, NDUFA2, NDUFA6, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NECTIN1, NEMF, NEU1, NEURL4, NEUROG1, NFASC, NFU1, NGLY1, NHLRC2, NKX6-2, NOTCH3, NRCAM, NRROS, NRXN1, NSRP1, NSUN2, NT5C2, NTNG2, NTRK1, NUBPL, NUDT2, NUP107, NUP188, NUP214, NUS1, OCLN, OGDH, OGDHL, ORC1, OSGEP, OTUD6B, OXR1, P4HTM, PAH, PAN2, PANK2, PARN, PARS2, PC, PCCA, PCCB, PCDH12, PCDHGC4, PCLO, PCNT, PCYT2, PDE1B, PDE2A, PDHX, PDZD8, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX26, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM2L1, PGM3, PHGDH, PI4K2A, PI4KA, PIBF1, PIDD1, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PISD, PITRM1, PLA2G6, PLAA, PLCB1, PLCH1, PLEKHG2, PLK4, PLPBP, PLXNA1, PLXNB2, PMM2, PMPCA, PMPCB, PNKP, PNPLA6, PNPLA8, PNPO, PNPT1, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POLRMT, POMGNT1, POMK, POMT1, POMT2, POR, PPFIBP1, PPIL1, PPOX, PPP1R15B, PPP1R21, PPT1, PRDM13, PRDM15, PREPL, PRKCG, PRKRA, PRMT7, PRODH, PRORP, PROSER1, PRRT2, PRUNE1, PSAP, PSAT1, PSMC3, PSMC5, PSMD11, PSMF1, PSPH, PTPMT1, PTPN23, PTRH2, PTRHD1, PTS, PUS1, PUS3, PUS7, PYCR1, PYCR2, QARS1, QDPR, RAB11A, RAB18, RAB23, RAB27A, RAB3GAP1, RAB3GAP2, RABGAP1, RALGAPA1, RAP1GDS1, RARB, RARS1, RARS2, RBBP8, RBL2, RCBTB1, RELN, RFT1, RGS6, RHOBTB2, RIC1, RIMS2, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF220, RNFT2, RNH1, RNPC3, RNU2-2P, RNU4-2, RNU4ATAC, ROBO1, ROGDI, RPGRIP1L, RPH3A, RPS6KC1, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RUBCN, RUSC2, RXYLT1, SAMHD1, SART3, SASS6, SBDS, SC5D, SCAF4, SCAPER, SCN10A, SCN1A, SCN1B, SCN8A, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SECISBP2, SENP7, SEPSECS, SERAC1, SETBP1, SETD1B, SFXN4, SGPL1, SGSH, SGSM3, SHANK3, SHMT2, SHQ1, SIAH1, SIL1, SKIC3, SKOR2, SLC12A2, SLC12A5, SLC12A6, SLC13A5, SLC17A5, SLC18A2, SLC19A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC25A42, SLC2A1, SLC30A9, SLC31A1, SLC33A1, SLC35A3, SLC35B2, SLC35C1, SLC38A3, SLC39A8, SLC44A1, SLC45A1, SLC46A1, SLC4A10, SLC4A4, SLC5A7, SLC6A17, SLC6A3, SLC6A9, SLF2, SMG8, SMG9, SMOC1, SMPD1, SMPD4, SNAP29, SNAPC4, SNAPIN, SNF8, SNIP1, SNX14, SOX4, SPART, SPG11, SPOUT1, SPR, SPRED2, SPTAN1, SPTBN2, SPTBN4, SRD5A3, SSPOP, ST3GAL3, ST3GAL5, STAMBP, STIL, STRA6, STRADA, STT3A, STUB1, STX1A, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SUZ12, SVBP, SYNJ1, SZT2, TACO1, TAF2, TAF6, TAF8, TANGO2, TARS2, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D7, TBCB, TBCD, TBCE, TBCK, TCN2, TCTN2, TDP2, TECPR2, TECR, TEFM, TELO2, TET3, TH, THG1L, THOC6, THUMPD1, TIAM1, TIMM50, TIMMDC1, TKFC, TKT, TLK2, TM2D3, TMCO1, TMEM107, TMEM147, TMEM161B, TMEM165, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM63C, TMEM67, TMEM70, TMEM94, TMTC3, TMX2, TNIK, TNR, TOE1, TOGARAM1, TOP3A, TOR1A, TOR1AIP1, TP53RK, TP73, TPI1, TPK1, TPO, TPP1, TPP2, TPRKB, TRAIP, TRAK1, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC2L, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIT1, TRMT1, TRMT10A, TRMT5, TRNT1, TRRAP, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSPOAP1, TTC5, TTC8, TTI1, TTI2, TUBGCP2, TUBGCP4, TUBGCP6, TUSC3, TWNK, UBA5, UBE3B, UBE4A, UBR1, UBR7, UFC1, UFM1, UFSP2, UGDH, UGGT1, UGP2, UNC13A, UNC45A, UNC80, UQCC2, VAC14, VARS1, VARS2, VLDLR, VPS11, VPS13B, VPS13D, VPS16, VPS35L, VPS37A, VPS41, VPS50, VPS53, VRK1, WARS1, WARS2, WASHC4, WASHC5, WBP4, WDR11, WDR4, WDR45B, WDR47, WDR62, WDR73, WDR81, WDR83OS, WIPI2, WLS, WNT1, WSB2, WWOX, XPA, XRCC4, XYLT1, YARS1, YIF1B, ZBTB11, ZBTB24, ZDHHC16, ZFHX3, ZFTRAF1, ZFYVE26, ZNF142, ZNF335, ZNF407, ZNF526, ZNF699, ZNHIT3, ZSCAN10, AARS2, ADD1, ALS2, AP3D1, ASAH1, ATP6V0A1, AXIN1, BOD1, CACHD1, CTNND2, DALRD3, DARS2, DCC, DNASE2, DOLK, DRG1, EHMT2, EIF3K, ELMO2, EXOC8, FASTKD5, FBN3, FBXO31, FRAS1, FSCN1, FTO, GIGYF1, GLS, GMNN, GRID1, GTPBP1, HARS1, HCRT, HIRA, HLCS, HSPA9, HSPD1, IPP, KBTBD2, KCNQ3, KIF5B, LINGO1, LMAN2L, LSM7, MAG, MAN2B2, MPC2, MRM2, NCDN, NDUFS6, NMNAT1, NPHP1, NSUN6, PARP6, PDCD6IP, PDE6D, PDSS2, PEX16, PEX2, PEX3, PIEZO2, PIGM, PLXNA2, POLR3K, POMGNT2, POU1F1, PRSS12, PTPA, RBM28, RFX4, SARS1, SEC31A, SEL1L, SH2B3, SLC12A9, SLC35A1, SLC6A19, SLK, SMAD6, SMC5, SPAST, SQSTM1, SUPV3L1, SYNE1, TAF13, TAF1C, TDP1, TOPORS, UBE3C, WDR91, ACTB, ACTG1, ACTL6A, ACVR1, ADNP, AFF4, AGAP1, AGO1, AGO2, AHDC1, AKT3, ANK2, ANKRD11, ANKRD17, ANKS1B, ANO4, AP2M1, ARCN1, ARF1, ARF3, ARFGEF1, ARHGAP32, ARID1A, ARID1B, ARID2, ARPC4, ASH1L, ASXL1, ASXL2, ASXL3, ATN1, ATP1A1, ATP1A3, ATP2A2, ATP2B2, ATP6V0C, ATP6V1B2, ATXN7L3, AUTS2, BAP1, BAZ2B, BCL11A, BCL11B, BICRA, BRAF, BRD4, BRPF1, BRSK2, CACNA1C, CACNA1D, CACNA1E, CACNA1I, CAMK2B, CAMK2D, CAMK4, CAMTA1, CAPRIN1, CBL, CCND2, CDC42, CDC42BPB, CDK13, CDK19, CDK8, CDON, CELF2, CELF4, CEP85L, CERT1, CHAMP1, CHD1, CHD2, CHD4, CHD5, CHD7, CHD8, CIC, CLCN6, CLCN7, CLDN11, CLDN5, CLTC, CNOT1, CNOT3, CNOT9, COL4A1, COL4A2, CREBBP, CRNKL1, CSDE1, CSNK1G1, CSNK2A1, CSNK2B, CTBP1, CTCF, CTNNB1, CTNND1, CTR9, CUL1, CUL3, CUX1, CUX2, CYFIP2, DAGLA, DDB1, DDX17, DDX23, DDX39B, DDX6, DENND2B, DENND5B, DHDDS, DHX9, DIP2C, DLG4, DLL1, DMPK, DNMT3A, DOCK4, DOT1L, DPF2, DPP6, DPYSL5, DSCAM, DYNC1H1, DYRK1A, EBF3, EED, EEF1A2, EEF2, EFTUD2, EHMT1, EIF3B, EIF5A, EMX2, EP300, ERF, EZH2, FBRSL1, FBXO28, FBXW11, FBXW7, FEM1B, FGF12, FGF14, FGFR1, FGFR2, FOSL2, FOXG1, FOXP1, FOXP2, FRMD5, FRYL, FTH1, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GATA6, GATAD2B, GDF11, GFAP, GLI2, GLI3, GNAI1, GNAO1, GNAS, GNB1, GNB2, GRIA2, GRIA4, GRIN2A, GRIN2B, GRIN2D, GSK3B, GTF2I, H1-4, H3-3A, H3-3B, H4C3, H4C5, H4C9, HCN1, HDAC3, HDAC4, HIVEP2, HK1, HMGB1, HNRNPC, HNRNPD, HNRNPH1, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, IDH2, IMPDH2, INTS6, IRF2BPL, JARID2, KANSL1, KAT5, KAT6A, KAT6B, KCNA2, KCNA3, KCNB1, KCNB2, KCNC1, KCNC2, KCNC3, KCND2, KCNH1, KCNH5, KCNJ11, KCNJ6, KCNK4, KCNK9, KCNN2, KCNN3, KCNQ2, KCNQ5, KCNT1, KCNT2, KDM3B, KIF11, KIF1A, KIF2A, KIF5C, KLHL20, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KRAS, LARP1, LDB1, LEO1, LHX2, LMBRD2, LMNB1, LRRC7, MAF, MAGEL2, MAP2K1, MAP2K2, MAP4K4, MAPK1, MAPK8IP3, MARK2, MAST1, MAST3, MAST4, MBD5, MCM6, MED12L, MED13, MEF2C, MEIS2, MIR17HG, MN1, MORC2, MRAS, MSL2, MTOR, MYCBP2, MYCN, MYH10, MYRF, MYT1L, NAA15, NACC1, NBEA, NCKAP1, NCOR1, NEDD4L, NEUROD2, NF1, NFIA, NFIB, NFIX, NIPBL, NLRP3, NOVA2, NPRL2, NR2F1, NR2F2, NR3C2, NR4A2, NRAS, NSD1, NSD2, NTRK2, ODC1, OTX2, PACS1, PACS2, PAFAH1B1, PAK1, PAX5, PAX6, PBX1, PCGF2, PDE4D, PHACTR1, PHF21A, PHF5A, PHIP, PIK3R1, PIK3R2, PIP5K1C, POGZ, POLR2A, POU3F2, POU3F3, POU4F1, PPFIA2, PPFIA3, PPM1D, PPP1CB, PPP1R12A, PPP2CA, PPP2R1A, PPP2R5C, PPP2R5D, PPP3CA, PRICKLE2, PRKACB, PRKAR1B, PRKCI, PRKD1, PRPF19, PRPF8, PRR12, PSMD12, PTBP1, PTCH1, PTDSS1, PTEN, PTPN11, PUF60, PUM1, PURA, QRICH1, RAB11B, RAB1A, RAB5C, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RAP1B, RBBP5, RBFOX1, RBPJ, RERE, RFX3, RFX7, RHEB, RICTOR, RIT1, RNF125, RNF13, RNF213, RNU5B-1, RORA, RORB, RRAS2, RYBP, SALL1, SAMD9, SATB1, SATB2, SCAMP5, SCN2A, SCN3A, SEMA6B, SEPHS1, SET, SETD1A, SETD2, SETD5, SF1, SHANK2, SHH, SHOC2, SIK1, SIN3A, SIN3B, SIX3, SKI, SLC1A2, SLC32A1, SLC6A1, SMAD4, SMARCA2, SMARCA4, SMARCA5, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, SMC3, SNAP25, SNRPB, SNW1, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX5, SOX6, SP9, SPECC1L, SPEN, SPOP, SPRED1, SPTBN1, SRCAP, SRP54, SRRM2, SRSF1, STAG1, STIM1, STX1B, SUPT16H, SYNCRIP, SYNGAP1, SYT1, TAB2, TAF4, TANC2, TAOK1, TAOK2, TBL1XR1, TBR1, TBX2, TCF12, TCF20, TCF4, TCF7L2, TCP1, TGIF1, THRA, TM4SF20, TMEM106B, TMEM184B, TMEM240, TMEM63A, TMEM63B, TNPO2, TNRC6B, TRA2B, TRAF7, TRIM71, TRIM8, TRIO, TRIP12, TRPM3, TSC1, TSC2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, U2AF2, UBA2, UBAP2L, UBE3A, UBR5, UBTF, UNC79, USP7, VAMP2, VCP, VPS4A, WAC, WASF1, WDFY3, WDR26, WDR37, WDR5, XPO1, YAP1, YWHAG, YY1, ZBTB18, ZBTB20, ZBTB47, ZBTB7A, ZEB2, ZFHX4, ZIC1, ZIC2, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF148, ZNF292, ZNF462, ZNF865, ZNRF3, ZSWIM6, AJAP1, ANO3, ARHGAP35, ARHGEF40, ATL1, BRSK1, CACNA2D3, CAPZA2, CBX1, CCT3, CCT6A, CCT8, CDKL2, CDO1, CHASERR, CHRNA4, CHTF18, CRMP1, DLG2, DOCK8, ERBB4, GABBR1, GABRA4, GATA3, GATAD2A, HDAC2, KCNA6, KDM1A, KIF21B, KIF5A, MAX, MGA, MRTFB, NKX2-1, NUSAP1, PABPC1, PALS1, PDGFRB, PPP2R2B, RIMS1, RNU5A-1, RRAGC, RUNX1T1, SLC30A7, SREBF2, THRB, TLK1, TMEM163, TWIST1, TWIST2, UPF1, USP25, YWHAE, ABCD1, AFF2, AIFM1, ALG13, AMER1, AP1S2, ARHGEF9, ARSL, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BCORL1, BRWD3, CASK, CCDC22, CDKL5, CLCN4, CNKSR2, CUL4B, DCX, DDX3X, DKC1, DLG3, DMD, EBP, EIF2S3, FAM50A, FGD1, FGF13, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GLRA2, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC8, HNRNPH2, HPRT1, HSD17B10, HUWE1, IDS, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIF4A, KLHL15, L1CAM, LAGE3, LAMP2, LAS1L, MAOA, MBTPS2, MECP2, MED12, MID1, MSL3, NAA10, NDP, NDUFA1, NEXMIF, NHS, NKAP, NLGN3, NONO, NSDHL, OCRL, OFD1, OGT, OPHN1, OTC, OTUD5, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGA, PLP1, PLXNA3, POLA1, PPP1R3F, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RLIM, RNF113A, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC35A2, SLC6A8, SLC9A6, SLC9A7, SLITRK2, SMARCA1, SMC1A, SMS, SOX3, SRPK3, SSR4, STAG2, STEEP1, SYN1, SYP, TAF1, TCEAL1, TFE3, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, WDR44, WDR45, WNK3, ZC4H2, ZDHHC9, ZFX, ZMYM3, ZNF711, ZRSR2, ACSL4, CDK16, DDX53, GABRA3, GPKOW, HS6ST2, KCND1, NLGN4X, PORCN, TRPC5
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 32318/32319) 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 36 Wochen
