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NGS Cornelia de Lange syndrome

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


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