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 1825 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 +/- 5bp). Dieses diagnostische Panel deckt über 99% der Zielregion mindestens 20x ab.
Liste der analysierten Gene (SysNDD Datenbank, Stand 18.10.2024)
AARS1, AARS2, AASS, ABAT, ABCA2, ABCC8, ABCC9, ABCD1, ABCD4, ABHD16A, ABHD5, ACAD9, ACADS, ACBD6, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADD1, ADD3, ADGRG1, ADGRL1, ADK, ADNP, ADPRS, ADSL, AFF2, AFF3, AFF4, AFG2A, AFG2B, AGA, AGAP1, AGMO, AGO1, AGO2, AGPAT2, AGPS, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AJAP1, AK1, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALS2, AMER1, AMFR, AMPD2, AMT, ANAPC1, ANK2, ANK3, ANKRD11, ANKRD17, ANKS1B, ANO10, ANO3, ANO4, AP1B1, AP1G1, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APTX, ARCN1, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGAP32, ARHGAP35, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARMC9, ARPC4, ARSA, ARSL, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATG7, ATIC, ATL1, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP2B1, ATP2B2, ATP5F1A, ATP5F1E, ATP5PO, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATP9A, ATR, ATRX, ATXN7L3, AUH, AUTS2, AXIN1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, BAP1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCS1L, BICRA, BLM, BLOC1S1, BLTP1, BOD1, BOLA3, BORCS8, BPTF, BRAF, BRAT1, BRCA1, BRD4, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BTD, BUB1B, BUD13, C12orf57, C2orf69, CA2, CA5A, CA8, CACHD1, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMK2D, CAMK4, CAMSAP1, CAMTA1, CAPN10, CAPN15, CAPRIN1, CAPZA2, CARS1, CARS2, CASK, CASP2, CBL, CBS, CBX1, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC174, CCDC22, CCDC32, CCDC47, CCDC82, CCDC88A, CCDC88C, CCND2, CDC42, CDC42BPB, CDH11, CDH2, CDK10, CDK13, CDK16, 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, CHASERR, CHD1, CHD2, CHD3, CHD4, CHD5, CHD7, CHD8, CHKA, CHKB, CHMP1A, CIC, CIT, CKAP2L, CLCN2, CLCN3, CLCN4, CLCN6, CLCN7, CLDN11, CLDN5, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR1, CNKSR2, CNNM2, CNOT1, CNOT3, CNOT9, CNPY3, CNTNAP1, CNTNAP2, COA8, COASY, COG1, COG5, COG6, COG7, COG8, COL18A1, COL27A1, COL3A1, COL4A1, COL4A2, COLEC11, COLGALT1, COPB1, COPB2, COQ2, COQ4, COQ7, COQ8A, COX10, COX15, CPE, CPLANE1, CPLX1, CPS1, CPSF3, CRADD, CRBN, CREBBP, CRELD1, CRIPT, CRLS1, CRMP1, CRPPA, CSDE1, CSF1R, CSGALNACT1, CSMD1, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CTBP1, CTCF, CTDP1, CTNNA2, CTNNB1, CTNND1, CTNND2, CTR9, CTSA, CTU2, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYFIP2, CYP26B1, CYP27A1, CYP2U1, D2HGDH, DAG1, DAGLA, DARS1, DARS2, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDB1, DDC, DDHD2, DDOST, DDX17, DDX23, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DENND5A, DENND5B, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHTKD1, DHX30, DHX37, DHX9, DIAPH1, DIP2C, DIS3L2, DKC1, DLAT, DLD, DLG2, DLG3, DLG4, DLL1, DMD, DMPK, DMXL2, DNAH14, DNAJC12, DNAJC19, DNASE2, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK4, DOCK6, DOCK7, DOCK8, DOHH, DOLK, DONSON, DOT1L, DPAGT1, DPF2, DPH1, DPH5, DPM1, DPM3, DPP6, DPYD, DPYSL5, DRG1, DSCAM, DTYMK, DYM, DYNC1H1, DYNC1I2, DYRK1A, EARS2, EBF3, EBP, ECHS1, EDEM3, EED, EEF1A2, EEF1B2, EEF1D, EEF2, EFL1, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, EIF4A3, EIF5A, ELAC2, ELMO2, ELOVL4, ELP2, EMC1, EMC10, EMG1, EML1, EMX2, ENTPD1, EP300, EPB41L3, EPG5, EPRS1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERI1, ERLIN2, ESAM, ESCO2, ETHE1, EXOC7, EXOC8, EXOSC2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT2, EXTL3, EZH1, EZH2, FA2H, FAM149B1, FAM177A1, FAM50A, FANCD2, FAR1, FARS2, FARSA, FASTKD2, FAT1, FAT4, FBN3, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO28, FBXO31, FBXW11, FBXW7, FCSK, FDFT1, FEM1B, FERRY3, FEZF2, FGD1, FGF12, FGF13, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FILIP1, FITM2, FKRP, FKTN, FLNA, FLVCR1, FMN2, FMR1, FOLR1, FOSL2, FOXG1, FOXP1, FOXP2, FOXP4, FOXRED1, FRA10AC1, FRAS1, FRMD4A, FRMD5, FRMPD4, FRRS1L, FRY, FRYL, FTH1, FTO, FTSJ1, FUCA1, FUT8, FZR1, GABBR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNT2, GALT, GAMT, GAN, GATA6, GATAD2A, GATAD2B, GATM, GBA2, GCDH, GCH1, GCSH, GDF1, GDF11, GDI1, GEMIN4, GEMIN5, GFAP, GFM1, GFM2, GIGYF1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLRA2, GLS, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB2, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GOLGA2, GOT2, GPAA1, GPC3, GPC4, GPHN, GPT2, GRIA1, GRIA2, GRIA3, GRIA4, GRID1, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GSS, GSX2, GTF2E2, GTF2H5, GTPBP1, GTPBP2, GTPBP3, GUSB, H1-4, H3-3A, H3-3B, H4C3, H4C5, H4C9, HACE1, HARS1, HAX1, HCCS, HCFC1, HCN1, HCN2, HCRT, HDAC2, HDAC3, HDAC4, HDAC8, HEATR3, HECTD4, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HID1, HIKESHI, HIRA, HIVEP2, HK1, HLCS, HMBS, HMGB1, HMGCL, HNMT, HNRNPC, HNRNPD, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HOXA1, HPCA, HPD, HPDL, HPRT1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSPA9, HSPD1, HTRA2, HTT, HUWE1, HYCC1, IARS1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IFT74, IGF1, IGF1R, IKBKG, IL1RAPL1, IMPA1, IMPDH2, INPP4A, INPP5E, INPP5K, INSR, INTS1, INTS11, IPO8, IPP, IQSEC1, IQSEC2, IRF2BPL, IRX5, ISCA2, ITCH, ITGAV, ITPA, ITPR1, ITSN1, IVD, JAM2, JAM3, JARID2, KANSL1, KARS1, KAT5, KAT6A, KAT6B, KAT8, KATNB1, KATNIP, KCNA1, KCNA2, KCNA3, KCNA6, KCNB1, KCNB2, KCNC1, KCNC2, KCND1, KCND2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNJ6, KCNK4, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD7, KDM1A, KDM2B, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0586, KIAA0753, KIDINS220, KIF11, KIF14, KIF1A, KIF21B, KIF2A, KIF4A, KIF5A, KIF5B, KIF5C, KIF7, KIFBP, KLHL15, KLHL20, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KPNA7, KPTN, KRAS, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP1, LARP7, LARS2, LAS1L, LDB1, LEO1, LETM1, LHX2, LIAS, LIG4, LINGO1, LINS1, LIPT2, LMBRD1, LMBRD2, LMNB1, LMNB2, LNPK, LONP1, LRP2, LRPPRC, LSM1, LSS, LTBP1, LYRM7, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAF, MAG, MAGEL2, MAN1B1, MAN2B1, MAN2C1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAP3K7, MAP4K4, MAPK1, MAPK8IP3, MAPKAPK5, MASP1, MAST1, MAST3, MAST4, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC2, MCM3AP, MCM6, MCOLN1, MCPH1, MDH2, MECP2, MED11, 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, MPC1, MPC2, MPDU1, MPDZ, MPLKIP, MRAS, MRE11, MRM2, MRPS22, MRPS34, MRTFB, MSL2, MSL3, MSMO1, MSTO1, MTFMT, MTO1, MTOR, MTR, MTRFR, MTRR, MTSS2, MVK, MYCBP2, MYCN, MYH10, MYO5A, MYRF, MYT1L, NAA10, NAA15, NAA20, NACC1, NAE1, NAGA, NAGLU, NALCN, NANS, NAPB, NARS1, NARS2, NAV3, NAXD, NAXE, NBEA, NBN, NCAPG2, NCDN, NCKAP1, NCOR1, NDC1, NDE1, NDP, NDST1, NDUFA1, NDUFA11, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NECTIN1, NEDD4L, NEMF, NEU1, NEURL4, NEUROD2, NEUROG1, NEXMIF, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC2, NHS, NIPBL, NKAP, NKX2-1, NKX6-2, NLGN3, NLGN4X, NLRP3, NMNAT1, NONO, NOTCH3, NOVA2, NPHP1, NPRL2, NR2F1, NR2F2, NR4A2, NRAS, NRCAM, NRROS, NRXN1, NSD1, NSD2, NSDHL, NSRP1, NSUN2, NSUN6, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUDT2, NUP107, NUP188, NUP214, NUS1, NUSAP1, OCLN, OCRL, ODC1, OFD1, OGDH, OGDHL, OGT, OPHN1, ORC1, OSGEP, OTC, OTUD5, OTUD6B, OTX2, OXR1, P4HTM, PABPC1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PALS1, PAN2, PANK2, PARN, PARP6, PARS2, PAX5, PAX6, PBX1, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCGF2, PCLO, PCNT, PCYT2, PDE2A, PDE4D, PDE6D, PDGFRB, PDHA1, PDHX, PDSS2, PDZD8, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX2, PEX26, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM2L1, PGM3, PHACTR1, PHF21A, PHF5A, 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, PIK3R1, PIK3R2, PIP5K1C, PISD, PITRM1, PLA2G6, PLAA, PLCB1, PLCH1, PLEKHG2, PLK4, PLP1, PLPBP, PLXNA1, PLXNA3, PLXNB2, PMM2, PMPCA, PMPCB, PNKP, PNPLA6, PNPLA8, PNPO, PNPT1, POGZ, POLA1, POLG, POLR1A, POLR1C, POLR2A, POLR3A, POLR3B, POLR3K, POLRMT, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PORCN, POU1F1, POU3F2, POU3F3, POU4F1, PPFIA3, PPFIBP1, PPIL1, PPM1D, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R21, PPP1R3F, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM13, PRDM15, PREPL, PRICKLE2, PRKACB, PRKAR1B, PRKCG, PRKD1, PRKRA, PRMT7, PRODH, PRORP, PROSER1, PRPF19, PRPF8, PRPS1, PRR12, PRRT2, PRSS12, PRUNE1, PSAP, PSAT1, PSMC3, PSMC5, PSMD11, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTPA, PTPMT1, PTPN11, PTPN23, PTRH2, PTRHD1, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, QARS1, QDPR, QRICH1, RAB11A, RAB11B, RAB18, RAB1A, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB5C, RABGAP1, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RALGAPA1, RAP1B, RAP1GDS1, RARB, RARS1, RARS2, RBBP5, RBBP8, RBFOX1, 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, RNF213, RNF220, RNFT2, RNH1, RNPC3, RNU4-2, RNU4ATAC, ROBO1, ROGDI, RORA, RORB, RPGRIP1L, RPH3A, RPL10, RPS6KA3, RRAGC, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RUSC2, SALL1, SAMD9, SAMHD1, SARS1, SART3, SASS6, SATB1, SATB2, SBDS, SC5D, SCAF4, SCAMP5, SCAPER, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEL1L, SEMA6B, SENP7, SEPHS1, SEPSECS, SERAC1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SFXN4, SGPL1, SGSH, SGSM3, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SHQ1, SHROOM4, SIAH1, SIK1, SIL1, SIN3A, SIN3B, SIX3, SKI, SKIC3, SLC12A2, SLC12A5, SLC12A6, SLC12A9, SLC13A5, SLC16A2, SLC17A5, SLC18A2, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC25A42, SLC2A1, SLC30A7, SLC30A9, SLC32A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35B2, SLC35C1, SLC38A3, SLC39A8, SLC44A1, SLC45A1, SLC46A1, SLC4A10, SLC4A4, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLC9A7, SLF2, SLITRK2, SMAD4, SMAD6, SMARCA1, SMARCA2, SMARCA4, SMARCA5, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMC5, SMG8, SMG9, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNAPC4, SNF8, SNIP1, SNRPB, SNX14, SNX27, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX4, SOX5, SOX6, SP9, SPART, SPECC1L, SPEN, SPG11, SPOP, SPOUT1, SPR, SPRED1, SPRED2, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRP54, SRPK3, SRRM2, SRSF1, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STEEP1, STIL, STIM1, STRA6, STRADA, STT3A, STUB1, STX1A, STX1B, STXBP1, SUCLA2, SUFU, SUOX, SUPT16H, SUPV3L1, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TAB2, TACO1, TAF1, TAF13, TAF2, TAF4, TAF6, TAF8, TANC2, TANGO2, TAOK1, TARS2, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX2, TCEAL1, TCF12, TCF20, TCF4, TCF7L2, TCN2, TCTN2, TDP2, TECPR2, TECR, TEFM, TELO2, TET3, TFE3, TGIF1, TH, THG1L, THOC2, THOC6, THRA, THRB, THUMPD1, TIAM1, TIMM50, TIMM8A, TIMMDC1, TKFC, TKT, TLK1, TLK2, TM4SF20, TMCO1, TMEM106B, TMEM107, TMEM147, TMEM161B, TMEM163, TMEM165, TMEM184B, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM240, TMEM63A, TMEM63B, TMEM63C, TMEM67, TMEM70, TMEM94, TMTC3, TMX2, TNIK, TNPO2, TNR, TNRC6B, TOE1, TOGARAM1, TOP3A, TOPORS, TOR1A, TOR1AIP1, TP53RK, TP73, TPI1, TPK1, TPO, TPP1, TPP2, TPRKB, TRA2B, TRAF7, TRAIP, TRAK1, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC2L, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIM71, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRMT5, TRNT1, TRPC5, TRPM3, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSPAN7, TSPOAP1, TTC5, TTC8, TTI1, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUSC3, TWIST1, TWIST2, TWNK, U2AF2, UBA2, UBA5, UBAP2L, UBE2A, UBE3A, UBE3B, UBE3C, UBE4A, UBR1, UBR7, UBTF, UFC1, UFM1, UFSP2, UGDH, UGP2, UNC45A, UNC79, UNC80, UPF3B, UQCC2, USP25, USP27X, USP7, USP9X, VAC14, VAMP2, VARS1, VARS2, VCP, VLDLR, VPS11, VPS13B, VPS13D, VPS16, VPS35L, VPS37A, VPS41, VPS4A, VPS50, VPS53, VRK1, WAC, WARS1, WARS2, WASF1, WASHC4, WASHC5, WBP4, WDFY3, WDR11, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR5, WDR62, WDR73, WDR81, WIPI2, WLS, WNK3, WNT1, WWOX, XPA, XRCC4, XYLT1, YAP1, YARS1, YIF1B, YWHAE, YWHAG, YY1, ZBTB11, ZBTB18, ZBTB20, ZBTB24, ZBTB47, ZBTB7A, ZC4H2, ZDHHC9, ZEB2, ZFHX3, ZFHX4, ZFTRAF1, ZFX, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYM2, ZMYM3, ZMYND11, ZMYND8, ZNF142, ZNF148, ZNF292, ZNF335, ZNF407, ZNF462, ZNF526, ZNF699, ZNF711, ZNHIT3, ZNRF3, ZRSR2, ZSCAN10, 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 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
