| Panel name | NGS Cornelia de Lange syndrome |
|---|---|
| Panel method | WES-based NGS |
| Panel version ** | CdLv3 |
| Panel quality *** | |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Note | Coverage gegevens volgen nog. |
| Location | Location AMC |
| Genes (31) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ADNP | |||||
| AFF4 | |||||
| ANKRD11 | |||||
| ARID1A | |||||
| ARID1B | |||||
| ASXL1 | |||||
| ASXL3 | |||||
| BRD4 | |||||
| CREBBP | |||||
| EP300 | |||||
| ESCO2 | |||||
| HDAC8 | |||||
| KMT2A | |||||
| MAU2 | |||||
| NIPBL | |||||
| PACS1 | |||||
| PHF6 | |||||
| PMM2 | |||||
| RAD21 | |||||
| ROR2 | |||||
| SMARCA2 | |||||
| SMARCA4 | |||||
| SMARCB1 | |||||
| SMARCE1 | |||||
| SMC1A | |||||
| SMC3 | |||||
| SOX11 | |||||
| TAF6 | |||||
| TBC1D24 | |||||
| UBE2A | |||||
| WNT5A |
| Indication(s) |
|---|
| Cornelia de Lange syndrome |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C