NGS Sudden cardiac death

Panel name	NGS Sudden cardiac death
Panel method	Targeted NGS
Panel version **	SCDv10
Panel quality ***	A
Core-NL	No core-NL genes included
CNV analysis	Yes
Location	Location AMC

Genes (65)	Quality	% coverage >30	% coverage >20	Core-NL	Note
ABCC9	A	100	100
AKAP9	A	100	100
ALG10B	A	100	100
ANK2	A	100	100
ANK3	A	100	100
CACNA1C	A	100	100
CACNA1D	A	100	100
CALM1	A	100	100
CALM2	A	100	100
CALM3	A	100	100
CASQ2	A	100	100
CAV3	A	100	100
DPP6	A	100	100
DSC2	A	100	100
DSG2	A	100	100
DSP	A	100	100
FLNC	A	100	100
GJA5	A	100	100
GJC1	A	100	100
GNB2	A	100	100
HCN4	A	100	100
HEY2	A	100	100
HOOK3	A	100	100
IRX3	A	100	100
JPH2	A	100	100
JUP	A	100	100
KCNA5	A	100	100
KCNAB2	A	100	100
KCND3	A	100	100
KCNE1	A	100	100
KCNE2	A	100	100
KCNE3	A	100	100
KCNH2	A	100	100
KCNJ2	A	100	100
KCNQ1	A	100	100
LAMP2	A	100	100
LMNA	A	100	100
MYBPC3	A	100	100		MYBPC3 Incl. introns
MYH7	A	100	100
MYL2	A	100	100
MYL3	A	100	100
MYL4	A	100	100
NKX2-5	A	100	100
NPPA	A	100	100
PKP2	A	100	100
PLN	A	100	100
POPDC2	A	100	100
PPA2	A	100	100
PRKAG2	A	100	100
RANGRF	A	100	100
RBM20	A	100	100
RRAD	A	100	100
RYR2	A	100	100
SCN5A	A	100	100
SLC4A3	A	100	100
SNTA1	A	100	100
TBX20	A	100	100
TCAP	A	100	100
TECRL	A	100	100
TNNI3	A	100	100
TNNI3K	A	100	100
TNNT2	A	100	100
TPM1	A	100	100
TRDN	A	100	100
TRPM4	A	100	100

Indication(s)
Sudden cardiac death

** 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