Menü
| Indikation |
|
| Material | |
| Klinische Fragestellung | Fehlbildung, syndromal |
| Gene | ACVR1 ADAMTS10 ADAMTS17 AFF4 AHI1 ANKRD11 ARHGAP31 ARID1A ARID1B ARL13B ARL6 B3GLCT B9D1 B9D2 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BMP2 BMP4 BMPR1B BTRC C2CD3 CACNA1C CC2D2A CCNQ CDH3 CEP104 CEP120 CEP290 CEP41 CHSY1 CHUK CKAP2L CPLANE1 CREBBP CSPP1 DDX59 DHCR7 DHODH DLL4 DLX5 DLX6 DOCK6 DPF2 DVL1 DVL3 DYNC1I1 EOGT EP300 ESCO2 EVC EVC2 FAT1 FBLN1 FBN1 FBXW4 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FLNA FMN1 FRAS1 FREM2 FZD2 GDF5 GDF6 GJA1 GLI2 GLI3 GNAS GSC HDAC4 HDAC8 HOXA13 HOXD13 IFT57 IHH INPP5E KDM6A KIAA0586 KIF7 KMT2A KMT2D LMBR1 LRP4 LTBP2 LTBP3 MAP3K20 MEGF8 MGP MKKS MKS1 MRE11 MYCN NECTIN1 NECTIN4 NIPBL NOG NOTCH1 NPHP1 NPHP3 NSDHL NXN OFD1 PDE3A PDE4D PDE6D PGM3 PHF6 PIGV PIK3CA PITX1 POLR1A PORCN PRKAR1A PRMT7 PTDSS1 PTHLH RAB23 RAD21 RBM8A RBPJ RECQL4 ROR2 RPGRIP1L SALL1 SALL4 SC5D SDCCAG8 SF3B4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMOC1 SOST SOX11 SOX9 TBX15 TBX3 TBX5 TCTN1 TCTN2 TCTN3 TGDS THPO TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TP63 TRIM32 TRPS1 TRPV4 TTC21B TTC8 VAC14 WDPCP WNT10B WNT3 WNT5A WNT7A ZNF423 ZSWIM6 |
| Methode | Next Generation Sequencing, NGS |