NGS Cornelia de Lange

Panel naam	NGS Cornelia de Lange
Panel methode	Wes-based NGS
Panel versie **	CdLv3
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Ja
Locatie	Locatie AMC

Genen (31)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
ADNP	C	100.00	100.00		NM_001282531.3
AFF4	C	99.95	99.99		NM_014423.4
ANKRD11	C	99.67	99.94		NM_013275.6
ARID1A	C	99.33	99.95		NM_006015.6
ARID1B	C	96.96	97.78		NM_001374828.1
ASXL1	C	100.00	100.00		NM_015338.5
ASXL3	C	100.00	100.00		NM_030632.3
BRD4	C	99.98	100.00		NM_001379291.1
CREBBP	C	100.00	100.00		NM_004380.3
EP300	C	99.97	100.00		NM_001429.4
ESCO2	C	100.00	100.00		NM_001017420.3
HDAC8	C	99.95	100.00		NM_018486.3
KMT2A	C	99.96	100.00		NM_001197104.2
MAU2	C	99.99	100.00		NM_015329.4
NIPBL	C	99.74	99.85		NM_133433.4
PACS1	C	99.99	100.00		NM_018026.4
PHF6	C	100.00	100.00		NM_001015877.2
PMM2	C	100.00	100.00		NM_000303.3
RAD21	C	100.00	100.00		NM_006265.3
ROR2	C	100.00	100.00		NM_004560.4
SMARCA2	C	99.85	99.97		NM_003070.5
SMARCA4	C	99.99	100.00		NM_003072.5
SMARCB1	C	100.00	100.00		NM_003073.5
SMARCE1	C	100.00	100.00		NM_003079.5
SMC1A	C	99.99	100.00		NM_006306.3
SMC3	C	100.00	100.00		NM_005445.4
SOX11	C	100.00	100.00		NM_003108.4
TAF6	C	99.88	99.94		NM_139315.3
TBC1D24	C	100.00	100.00		NM_001199107.2
UBE2A	C	100.00	100.00		NM_003336.4
WNT5A	C	99.97	100.00		NM_003392.7

Indicatie(s)
Cornelia de Lange syndroom

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C