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