Extremitätenfehlbildungen sind angeborene Fehlbildungen, die die Entwicklung der Gliedmaßen betreffen. Auf genetischer Ebene können sie durch verschiedene Mechanismen verursacht werden. Eine wichtige Ursache sind Mutationen in Entwicklungsgenen, die die Bildung und Differenzierung der Gliedmaßen steuern, wie das HOX-Gencluster. Diese Mutationen können zu Polydaktylie (überzählige Finger oder Zehen), Syndaktylie (zusammengewachsene Finger oder Zehen) oder Oligodaktylie (zu wenige Finger oder Zehen) führen.
Darüber hinaus können Chromosomenstörungen wie Trisomien oder Deletionen Extremitätenfehlbildungen verursachen. Umweltfaktoren wie teratogene Substanzen oder Infektionen während der Schwangerschaft können ebenfalls eine Rolle spielen. Bei einigen Extremitätenfehlbildungen wurde eine familiäre Häufung beobachtet, was auf eine genetische Prädisposition hinweist.
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Extremitätenfehlbildung (Panel-Diagnostik)
- Material Nabelschnur-Blut (EDTA)
- Analysedauer
- 2-3 Wochen
- Gen Panels
- Extremitätenfehlbildungs Panel (2337 Gene: WES-Enrichment und Phänotyp-basiertes Subpanel), AAAS, AAGAB, AARS1, ABCA12, ABCA3, ABCC6, ABCC8, ABCC9, ABCD1, ABHD12, ABHD16A, ABHD5, ABL1, ACAN, ACOX1, ACP5, ACSL4, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6B, ACTN2, ACVR1, ACVRL1, ADA, ADA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTS3, ADAMTSL1, ADAMTSL2, ADAR, ADAT3, ADCY5, ADGRG1, ADGRG6, ADGRV1, ADH5, ADK, ADNP, ADPRS, ADSS1, AEBP1, AFF2, AFF3, AFF4, AFG3L2, AGA, AGGF1, AGO2, AGPAT2, AGPS, AGRN, AHCY, AHI1, AHSG, AIFM1, AIP, AK9, AKT1, AKT2, AKT3, ALAD, ALB, ALDH18A1, ALDH1A2, ALDH6A1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, ALX1, ALX3, ALX4, AMER1, AMMECR1, AMPD1, AMPD3, ANAPC1, ANK1, ANKH, ANKLE2, ANKRD1, ANKRD11, ANKRD55, ANO1, ANO10, ANO5, ANOS1, ANTXR1, ANTXR2, ANXA11, AP1B1, AP1G1, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APC2, APTX, AQP5, AR, ARCN1, ARF1, ARFGEF2, ARHGAP31, ARHGEF2, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARL6IP1, ARL6IP6, ARMC9, ARNT2, ARPC4, ARSB, ARSI, ARSK, ARSL, ARV1, ARVCF, ARX, ASAH1, ASH1L, ASNS, ASPH, ASPN, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATG7, ATL1, ATL3, ATN1, ATP11A, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP2B1, ATP5F1D, ATP5MC3, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP6V1E1, ATP7A, ATP7B, ATPAF2, ATR, ATRIP, ATRX, ATXN10, ATXN3, AUTS2, B2M, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT7, B4GAT1, B9D1, B9D2, BAG3, BAG5, BANF1, BAP1, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAS3, BCL7B, BCOR, BCORL1, BCR, BGN, BHLHA9, BICD2, BICRA, BIN1, BLM, BLTP1, BMP1, BMP15, BMP2, BMP4, BMP6, BMPER, BMPR1A, BMPR1B, BMS1, BNC1, BPNT2, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD4, BRF1, BRIP1, BRPF1, BRWD3, BSCL2, BTD, BTNL2, BTRC, BUB1, BUB1B, BUB3, BUD23, BVES, C12orf57, C18orf32, C19orf12, C1R, C2CD3, CA2, CACNA1A, CACNA1B, CACNA1C, CACNA1G, CACNA1S, CACNA2D1, CADM3, CAMK2A, CAMK2G, CAMTA1, CANT1, CAP2, CAPN1, CAPN3, CARD14, CARS1, CASK, CASR, CAST, CASZ1, CAV1, CAV3, CAVIN1, CBL, CBS, CBY1, CC2D2A, CCBE1, CCDC103, CCDC134, CCDC141, CCDC22, CCDC28B, CCDC32, CCDC39, CCDC40, CCDC47, CCDC65, CCDC8, CCDC88A, CCN2, CCN6, CCND1, CCND2, CCNF, CCNK, CCNO, CCNQ, CCR6, CCT5, CD244, CD247, CD28, CD4, CD40LG, CD55, CD59, CD96, CDAN1, CDC42, CDC42BPB, CDC45, CDC6, CDCA7, CDH1, CDH11, CDH23, CDH3, CDIN1, CDK10, CDK13, CDK19, CDK5, CDKL5, CDKN1C, CDON, CDSN, CDT1, CELF2, CENPE, CENPF, CENPJ, CENPT, CEP104, CEP120, CEP126, CEP152, CEP164, CEP19, CEP290, CEP41, CEP55, CEP57, CEP85L, CERS3, CERT1, CFAP221, CFAP298, CFAP300, CFAP410, CFAP418, CFL2, CFTR, CHAT, CHCHD10, CHD1, CHD2, CHD3, CHD4, CHD7, CHD8, CHEK2, CHMP1A, CHN1, CHP1, CHRM3, CHRNA1, CHRNA7, CHRNB1, CHRND, CHRNE, CHRNG, CHST11, CHST14, CHST3, CHSY1, CHUK, CIB1, CIBAR1, CIC, CIDEC, CIITA, CILK1, CITED2, CKAP2L, CLCF1, CLCN1, CLCN3, CLCN4, CLCN5, CLCN7, CLDN11, CLIC2, CLIP2, CLPB, CLTC, CLTCL1, CNKSR2, CNOT1, CNOT2, CNOT3, CNTN1, CNTNAP1, CNTNAP2, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL14A1, COL17A1, COL1A1, COL1A2, COL25A1, COL27A1, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLQ, COMP, COMT, COPB1, COQ8A, COX14, COX20, COX4I1, COX6A1, COX7B, COX8A, CPLANE1, CPLX1, CPOX, CPT1C, CPT2, CRB2, CREB3L1, CREBBP, CRIPT, CRKL, CRLF1, CRPPA, CRTAP, CRYAB, CSF1R, CSGALNACT1, CSNK2A1, CSPP1, CSRP3, CST6, CSTA, CTBP1, CTC1, CTCF, CTDP1, CTH, CTLA4, CTNNB1, CTNND1, CTNND2, CTNS, CTSB, CTSC, CTSD, CTSK, CTU2, CUL3, CUL4B, CUL7, CWC27, CWF19L1, CYFIP2, CYP19A1, CYP26B1, CYP27A1, CYP27B1, CYP2R1, CYP3A4, CYP4F22, CYP7B1, DACT1, DAG1, DALRD3, DARS2, DBH, DCAF8, DCC, DCHS1, DCLRE1C, DCPS, DCTN1, DDC, DDHD1, DDHD2, DDR2, DDRGK1, DDX11, DDX59, DDX6, DEAF1, DES, DGCR2, DGCR6, DGCR8, DGUOK, DHCR24, DHCR7, DHDDS, DHH, DHODH, DHPS, DHTKD1, DHX16, DHX30, DIS3L2, DISP1, DKC1, DKK1, DLAT, DLEC1, DLG4, DLK1, DLL1, DLL3, DLL4, DLX3, DLX4, DLX5, DLX6, DMD, DMP1, DMPK, DMXL2, DNA2, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJB2, DNAJB6, DNAJC12, DNAJC21, DNAJC3, DNAJC30, DNAJC6, DNAL1, DNM1, DNM1L, DNM2, DNMT3A, DNMT3B, DOCK3, DOCK6, DOK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPH2, DPH5, DPM1, DPM3, DPP9, DPYD, DPYS, DPYSL5, DRC1, DSC2, DSE, DSG1, DSG2, DSP, DST, DSTYK, DUOX2, DUOXA2, DUSP6, DVL1, DVL3, DYM, DYNC1H1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, DYSF, DZIP1L, EBF3, EBP, ECE1, ECEL1, EDA, EDA2R, EDEM3, EDN3, EDNRB, EED, EEF1A2, EFEMP2, EFL1, EFNB1, EFTUD2, EGR2, EHHADH, EHMT1, EIF2AK2, EIF2AK3, EIF2AK4, EIF2S3, EIF3F, EIF4A3, EIF4H, EIF5A, ELN, ELOVL4, EMC1, EMD, EMG1, EMILIN1, EN1, ENG, ENPP1, ENTPD1, EOGT, EP300, EPB41L1, EPHB4, EPS15L1, ERBB2, ERBB3, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERGIC1, ERLIN1, ERLIN2, ERMARD, ESCO2, ESS2, EVC, EVC2, EXOC6B, EXOC7, EXOSC2, EXOSC3, EXOSC5, EXOSC9, EXT1, EXT2, EXTL3, EYA1, EZH2, FA2H, FAH, FAM111A, FAM13A, FAM149B1, FAM20C, FAM50A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FARSA, FASTKD2, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBXL3, FBXL4, FBXO11, FBXO28, FBXO38, FBXO7, FBXW11, FBXW4, FCGR2A, FDFT1, FDX2, FERMT1, FEZF1, FGD1, FGD4, FGF10, FGF12, FGF13, FGF14, FGF16, FGF17, FGF20, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFRL1, FHL1, FHL2, FIBP, FIG4, FITM2, FKBP10, FKBP14, FKBP6, FKRP, FKTN, FLG, FLI1, FLII, FLNA, FLNB, FLNC, FLRT1, FLRT3, FLT4, FLVCR1, FMR1, FN1, FOS, FOXA2, FOXE3, FOXG1, FOXH1, FOXJ1, FOXP1, FRAS1, FREM1, FREM2, FRG1, FRMD4A, FSHR, FTO, FTSJ1, FUCA1, FUT8, FUZ, FXN, FZD2, FZR1, G6PC3, GAA, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRD, GABRG2, GAD1, GALC, GALNS, GALNT2, GAN, GARS1, GAS1, GAS2L2, GAS8, GATA1, GATA2, GATA4, GATA5, GATA6, GATAD1, GATAD2B, GBA1, GBA2, GBE1, GBF1, GCH1, GDAP1, GDF1, GDF11, GDF5, GDF6, GDNF, GEMIN4, GFAP, GFM2, GFPT1, GFRA1, GGCX, GHR, GIPC1, GJA1, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GLA, GLB1, GLE1, GLI1, GLI2, GLI3, GLMN, GLRA1, GLRB, GLUL, GLYCTK, GMNN, GMPPA, GMPPB, GNA11, GNAI1, GNAO1, GNAQ, GNAS, GNAS-AS1, GNB1, GNB2, GNB4, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GOSR2, GP1BB, GPC3, GPC4, GPC6, GPHN, GPKOW, GPR101, GPR35, GPX4, GRB10, GREB1L, GRIA2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM7, GSC, GTF2E2, GTF2H5, GTF2I, GTF2IRD1, GTF2IRD2, GTPBP2, GUSB, GYG1, GZF1, H1-4, H19, H3-3A, H3-3B, H4C11, H4C3, H4C5, H4C9, HAAO, HACD1, HACE1, HADHA, HADHB, HAND2, HARS1, HBA1, HBA2, HBB, HCCS, HCN1, HDAC4, HDAC6, HDAC8, HEATR3, HEPHL1, HERC1, HERC2, HES7, HESX1, HEXB, HEY2, HFE, HGD, HHAT, HIC1, HINT1, HIRA, HIVEP2, HK1, HLA-DRB1, HMBS, HMGA2, HNF1B, HNRNPA1, HNRNPDL, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HOXA11, HOXA13, HOXD10, HOXD13, HPGD, HPRT1, HRAS, HS2ST1, HS6ST1, HSD17B4, HSPA9, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTT, HUWE1, HYAL1, HYCC1, HYDIN, HYLS1, HYMAI, HYOU1, IARS1, IARS2, IBA57, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFNGR1, IFRD1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGF1, IGF1R, IGF2, IGHMBP2, IHH, IKBKG, IL10, IL11RA, IL17RD, IL21, IL2RA, IL2RB, IL2RG, IL6ST, IL7R, IMPDH2, INF2, INPP5E, INPP5K, INPPL1, INSR, INTS1, INTS8, INTU, IPO8, IPW, IQCE, IQSEC2, IRF4, IRF5, IRF6, IRX5, ITCH, ITGA7, ITGA8, ITGB4, ITGB6, IVNS1ABP, IYD, JAG1, JAG2, JMJD1C, JPH1, JUP, KANK2, KANSL1, KARS1, KAT6A, KAT6B, KAT8, KATNB1, KATNIP, KBTBD13, KCNA1, KCNA2, KCNAB2, KCNB1, KCNE5, KCNH1, KCNJ10, KCNJ11, KCNJ18, KCNJ2, KCNJ5, KCNJ8, KCNK4, KCNK9, KCNN3, KCNQ1, KCNQ1OT1, KCTD1, KDELR2, KDM1A, KDM4B, KDM5B, KDM5C, KDM6A, KDM6B, KDR, KDSR, KIAA0319L, KIAA0586, KIAA0753, KIAA0825, KIDINS220, KIF14, KIF15, KIF1A, KIF1B, KIF22, KIF3B, KIF5A, KIF5C, KIF7, KIFBP, KIT, KL, KLC2, KLF13, KLHL15, KLHL24, KLHL40, KLHL41, KLHL9, KLLN, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNSTRN, KPNA3, KPTN, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT83, KRT9, KY, KYNU, L1CAM, LAGE3, LAMA2, LAMA3, LAMA4, LAMA5, LAMB2, LAMB3, LAMC2, LAMP2, LARGE1, LARS1, LARS2, LAS1L, LBR, LDB3, LEMD2, LEMD3, LETM1, LFNG, LGI4, LHX3, LHX4, LIFR, LIG3, LIG4, LIMK1, LIMS2, LIPE, LITAF, LMBR1, LMBRD1, LMBRD2, LMNA, LMNB2, LMOD3, LMX1B, LONP1, LORICRIN, LOX, LOXL3, LPIN1, LPIN2, LRBA, LRIF1, LRP12, LRP4, LRP5, LRRC56, LRRK1, LRSAM1, LSS, LTBP1, LTBP2, LTBP3, LTBP4, LUZP1, LYSET, LYST, LZTFL1, LZTR1, MAB21L2, MACF1, MACROH2A1, MAD2L2, MADD, MAF, MAFB, MAG, MAGEL2, MAN1B1, MAN2B1, MAN2C1, MAP1B, MAP2K1, MAP2K2, MAP3K20, MAP3K7, MAPK1, MAPK8IP3, MAPKAPK5, MAPRE2, MAPT, MARS1, MASP1, MAT2A, MATN3, MATR3, MBD5, MBTPS1, MBTPS2, MCIDAS, MCM3AP, MCOLN1, MCTP2, MECOM, MECP2, MED12, MED12L, MED13L, MED25, MEF2C, MEFV, MEG3, MEGF10, MEGF8, MEIS2, MEN1, MESP2, MET, METTL23, METTL27, MFAP5, MFN2, MFSD2A, MGAT2, MGP, MIA3, MICU1, MID2, MINPP1, MIR140, MIR17HG, MKKS, MKRN3, MKS1, MLIP, MLXIPL, MME, MMP1, MMP13, MMP14, MMP2, MMP23B, MMP9, MNX1, MOGS, MORC2, MPLKIP, MPV17, MPZ, MRAS, MRE11, MRPS16, MRPS2, MRPS22, MRPS28, MSL3, MST1, MSTO1, MSX1, MSX2, MT-ATP6, MT-CO1, MT-CO3, MT-TE, MT-TS1, MTAP, MTHFR, MTM1, MTMR14, MTMR2, MTOR, MTPAP, MTRFR, MTRR, MTTP, MTX2, MUC5B, MUSK, MYBPC1, MYBPC3, MYCN, MYD88, MYF6, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYL1, MYL11, MYL2, MYLK, MYMK, MYMX, MYO18B, MYO9A, MYOD1, MYOT, MYPN, MYRF, MYSM1, MYT1L, NAA10, NAA20, NADSYN1, NALCN, NANS, NARS1, NARS2, NBAS, NCAPD3, NCAPG2, NCF1, NCKAP1L, NDE1, NDN, NDNF, NDRG1, NDST1, NDUFA9, NDUFAF6, NDUFB11, NDUFC2, NDUFS8, NEB, NECAP1, NECTIN1, NECTIN4, NEDD4L, NEFH, NEFL, NEK1, NEK10, NEK8, NEK9, NELFA, NEPRO, NEU1, NEUROD2, NEXMIF, NEXN, NF1, NF2, NFASC, NFIX, NFKBIL1, NGF, NGLY1, NHP2, NHS, NIN, NIPA1, NIPAL4, NIPBL, NKAP, NKX2-5, NKX2-6, NKX3-2, NLRP1, NLRP3, NME8, NOD2, NODAL, NOG, NONO, NOP10, NOTCH1, NOTCH2, NOTCH2NLC, NOTCH3, NPAP1, NPHP1, NPHP3, NPM1, NPR2, NPR3, NR2F1, NR3C1, NR4A2, NR5A1, NRAS, NRCAM, NRTN, NSD1, NSD2, NSDHL, NSMCE2, NSMF, NSUN2, NT5C2, NTNG1, NTRK1, NTRK2, NUP107, NUP133, NUP188, NUP37, NUP62, NUP85, NUP88, NUS1, NXN, OBSL1, OCA2, OCRL, ODAD1, ODAD2, ODAD3, ODAD4, ODC1, OFD1, OGDHL, OGT, OPA1, OPA3, ORAI1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTUD5, OTUD6B, OTX2, P3H1, P4HB, P4HTM, PABPN1, PACS1, PACS2, PAFAH1B1, PAH, PAICS, PAK3, PALB2, PAM16, PANK2, PAPPA2, PAPSS2, PARN, PARS2, PAX1, PAX3, PCCA, PCCB, PCDH19, PCDHGC4, PCGF2, PCNA, PCNT, PCYT1A, PDE3A, PDE4D, PDE6D, PDGFB, PDGFRB, PDHA1, PDK3, PDPN, PDXK, PDZD8, PEPD, PERP, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP2, PGAP3, PGM3, PHEX, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKB, PHYH, PI4KA, PIBF1, PIEZO2, PIGA, PIGB, PIGF, PIGG, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PIGY, PIK3C2A, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PISD, PITX1, PKDCC, PKHD1, PKP1, PLA2G6, PLAA, PLAG1, PLAGL1, PLCB3, PLCH1, PLEC, PLEKHG4, PLEKHG5, PLEKHM1, PLIN1, PLK4, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLXND1, PMM2, PMP2, PMP22, PMPCA, PNKP, PNPLA1, PNPLA2, PNPLA6, PNPT1, POC1A, PODXL, POFUT1, POGLUT1, POGZ, POLA1, POLE, POLG, POLG2, POLR1A, POLR3A, POLR3B, POLR3GL, POLR3H, POLRMT, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, POP1, POPDC3, POR, PORCN, POU1F1, POU3F4, PPARG, PPCS, PPIB, PPM1D, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R3C, PPP2R5D, PPP3CA, PQBP1, PRDM13, PRDM16, PRDM5, PRG4, PRIM1, PRKACA, PRKACB, PRKAR1A, PRKAR1B, PRKCG, PRKCZ, PRKD1, PRKDC, PRKG1, PRKG2, PRMT7, PRNP, PROK2, PROKR2, PROP1, PRORP, PRPS1, PRR12, PRRT2, PRUNE1, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSENEN, PSMB4, PSMB8, PSMB9, PSMC1, PSMC3IP, PSMD12, PSTPIP1, PTCH1, PTCH2, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPN11, PTPN2, PTPN22, PTPRF, PTRH2, PUF60, PUM1, PURA, PUS3, PWAR1, PWRN1, PYCR1, PYCR2, PYROXD1, QRICH1, RAB11B, RAB18, RAB23, RAB33B, RAB3GAP1, RAB3GAP2, RAB7A, RAC1, RAC3, RAD21, RAD51, RAD51C, RAF1, RAG1, RAG2, RAI1, RALA, RAPSN, RARS1, RASA1, RASA2, RASGRP1, RB1, RBBP8, RBM10, RBM20, RBM28, RBM8A, RBPJ, RDH11, RECQL4, REEP1, REEP2, RELN, REPS1, RERE, RET, RETREG1, REV3L, RFC2, RFT1, RFWD3, RHBDF2, RHOA, RHOBTB2, RIN2, RINT1, RIPK4, RIPPLY2, RIT1, RLIM, RMRP, RNASEH1, RNF113A, RNF125, RNF13, RNF170, RNF2, RNF216, RNF6, RNU4ATAC, RNU7-1, ROR2, RPGR, RPGRIP1, RPGRIP1L, RPL10, RPL11, RPL13, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS23, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAS, RRAS2, RREB1, RRM2B, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPO2, RSPRY1, RTEL1, RTL1, RTN2, RTTN, RUBCN, RUNX2, RUSC2, RXYLT1, RYR1, SACS, SALL1, SALL4, SAMD9, SAMD9L, SARDH, SARS1, SASH1, SATB1, SATB2, SBDS, SBF1, SBF2, SC5D, SCAPER, SCARB2, SCARF2, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCNM1, SCNN1A, SCNN1B, SCNN1G, SCO2, SCUBE3, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHC, SDHD, SDR9C7, SEC23A, SEC23B, SEC24C, SEC24D, SEC31A, SECISBP2, SELENOI, SELENON, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA4D, SEMA5A, SEPSECS, SEPTIN9, SERPINA12, SERPINB7, SERPINF1, SERPINH1, SET, SETBP1, SETD1B, SETD2, SETD5, SETX, SF3B2, SF3B4, SFRP4, SFTPA1, SFTPA2, SFTPB, SFTPC, SGCA, SGCB, SGCD, SGCG, SGMS2, SH2B1, SH3PXD2B, SH3TC2, SHANK3, SHH, SHMT2, SHOC2, SHOX, SHROOM4, SIAH1, SIGMAR1, SIK1, SIK3, SIL1, SIM1, SIN3A, SIN3B, SIX1, SIX3, SKI, SKIC3, SLC10A7, SLC12A2, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC1A2, SLC1A3, SLC1A4, SLC22A4, SLC25A1, SLC25A12, SLC25A19, SLC25A21, SLC25A22, SLC25A24, SLC25A4, SLC25A46, SLC26A2, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC30A9, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC38A3, SLC39A13, SLC39A14, SLC39A8, SLC52A2, SLC52A3, SLC5A5, SLC5A6, SLC5A7, SLC6A1, SLC6A17, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SLC9A7, SLCO2A1, SLURP1, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCC2, SMARCD1, SMARCD2, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMN1, SMN2, SMO, SMOC1, SMPD4, SMPX, SMS, SNAP25, SNAP29, SNCA, SNIP1, SNORD115-1, SNORD116-1, SNRPB, SNRPN, SNX10, SNX14, SOD1, SON, SORD, SOS1, SOS2, SOST, SOX10, SOX11, SOX18, SOX4, SOX5, SOX6, SOX9, SP7, SPAG1, SPARC, SPART, SPAST, SPATA5, SPECC1L, SPEF2, SPEG, SPEN, SPG11, SPG21, SPG7, SPIDR, SPOP, SPR, SPRED1, SPRED2, SPRTN, SPRY4, SPTBN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRCAP, SRD5A3, SREBF1, SRP54, SRPX2, SRY, SSR4, ST3GAL5, STAC3, STAG1, STAG2, STAMBP, STAT4, STIL, STIM1, STK11, STK36, STN1, STS, STUB1, STX16, STX1A, STX1B, STXBP1, SUCLG1, SUFU, SUMF1, SUPT16H, SUZ12, SVBP, SVIL, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYT1, SYT2, SZT2, TACR3, TAF1, TAF1A, TAF2, TAF6, TAF8, TAFAZZIN, TAOK1, TAPT1, TARS1, TARS2, TASP1, TAT, TBC1D23, TBC1D24, TBC1D2B, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBL2, TBR1, TBX1, TBX15, TBX2, TBX20, TBX22, TBX3, TBX4, TBX5, TBXAS1, TCAP, TCF12, TCF20, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDGF1, TDO2, TDP1, TELO2, TENT5A, TERC, TERT, TET3, TFAP2A, TFAP2B, TFE3, TFG, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM1, TGM5, TH, THOC2, THOC6, THRA, TIA1, TIE1, TIMM22, TIMM8A, TINF2, TK2, TLK2, TLL1, TMCO1, TMEM107, TMEM138, TMEM147, TMEM165, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM260, TMEM270, TMEM38B, TMEM43, TMEM53, TMEM67, TMEM70, TMEM94, TMPO, TMTC3, TNFRSF11A, TNFRSF11B, TNFRSF1A, TNFRSF1B, TNFSF11, TNNC1, TNNI2, TNNI3, TNNT2, TNNT3, TNPO3, TNR, TOE1, TOGARAM1, TONSL, TOPORS, TOR1A, TOR1AIP1, TP53, TP53RK, TP63, TPM1, TPM2, TPM3, TPO, TPRKB, TRAF3IP1, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC9, TREX1, TRIM2, TRIM32, TRIM37, TRIM8, TRIO, TRIP11, TRIP12, TRIP13, TRIP4, TRMT1, TRMT10A, TRMT5, TRPM4, TRPS1, TRPV3, TRPV4, TRPV6, TRRAP, TSEN15, TSEN2, TSEN34, TSEN54, TSHB, TSHR, TSPOAP1, TSR2, TTC12, TTC21B, TTC26, TTC8, TTI2, TTN, TTPA, TUBA1A, TUBB, TUBB3, TWIST1, TWIST2, TWNK, TXNDC15, TXNL4A, TXNRD2, TYMP, TYMS, TYROBP, UBA1, UBA2, UBA5, UBAP1, UBE2A, UBE2T, UBE3A, UBE3B, UBE4B, UBR1, UBR7, UBTF, UCHL1, UFD1, UFSP2, UGP2, UNC45A, UNC45B, UNC80, UPF3B, UQCC2, UROS, USB1, USF3, USP48, USP7, USP8, USP9X, VAC14, VAMP1, VANGL1, VARS1, VCL, VCP, VDR, VHL, VIPAS39, VLDLR, VMA21, VPS13A, VPS13B, VPS13D, VPS33A, VPS33B, VPS35L, VPS37A, VPS37D, VPS41, VPS51, VRK1, VWA1, WAC, WARS1, WARS2, WASF1, WASHC5, WDPCP, WDR11, WDR19, WDR26, WDR35, WDR37, WDR4, WDR48, WDR62, WDR73, WDR81, WFS1, WIPI2, WLS, WNK1, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WNT9B, WRAP53, WRN, WWOX, XK, XRCC2, XRCC4, XYLT1, XYLT2, YARS1, YRDC, YWHAE, YWHAG, YY1, YY1AP1, ZBTB20, ZC4H2, ZDHHC9, ZEB2, ZFP57, ZFPM2, ZFY E26, ZFYVE27, ZIC1, ZIC2, ZIC3, ZMIZ1, ZMPSTE24, ZMYM2, ZMYND10, ZNF141, ZNF148, ZNF292, ZNF407, ZNF423, ZNF462, ZNF469, ZNF699, ZNHIT3, ZPR1, ZSWIM6, ZSWIM7
- Ansprechpartner PD Dr. med. Moneef Shoukier
- Telefon 18
- Telefax +49-89-130744-0
- E-Mail +49-89-130744-99
Anschrift für Probeneinsendungen
Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH
Lochhamerstraße 15
D-82152 Planegg
Lochhamerstraße 15
D-82152 Planegg
