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NGS Cardiomyopathy

Panel name NGS Cardiomyopathy
Panel method Targeted NGS
Panel version ** CMv20
Panel quality *** A
Core-NL 36 core-NL genes included
CNV analysis Yes
Location Location AMC
Genes (59) Quality % coverage >30 % coverage >20 Core-NL Note
ACTC1 A 100.0 100.0 core-NL
ACTN2 A 100.0 100.0 core-NL
ALPK3 A 100.0 100.0 core-NL
ANKRD1 A 100.0 100.0
BAG3 A 100.0 100.0 core-NL
CALR3 A 100.0 100.0
CAV3 A 100.0 100.0
CDH2 A 100.0 100.0
CRYAB A 100.0 100.0
CSRP3 A 100.0 100.0 core-NL
CTNNA3 A 100.0 100.0
DES A 100.0 100.0 core-NL
DMD A 100.0 100.0
DSC2 A 100.0 100.0 core-NL
DSG2 A 100.0 100.0 core-NL
DSP A 100.0 100.0 core-NL
EMD A 100.0 100.0
FHL1 A 100.0 100.0 core-NL
FHL2 A 100.0 100.0
FHOD3 A 100.0 100.0
FKRP A 100.0 100.0
FLNC A 100.0 100.0 core-NL
GLA A 100.0 100.0 core-NL
HCN4 A 100.0 100.0 core-NL
JPH2 A 100.0 100.0 core-NL
JUP A 100.0 100.0 core-NL
LAMA4 A 100.0 100.0
LAMP2 A 100.0 100.0 core-NL
LDB3 A 100.0 100.0
LMNA A 100.0 100.0 core-NL
MIB1 A 100.0 100.0
MYBPC3 A 100.0 100.0 core-NL incl alle intronen MYBPC3
MYH6 A 100.0 100.0
MYH7 A 100.0 100.0 core-NL
MYL2 A 100.0 100.0 core-NL
MYL3 A 100.0 100.0 core-NL
MYLK3 A 100.0 100.0
MYOZ2 A 100.0 100.0
MYPN A 100.0 100.0
NEXN A 100.0 100.0 core-NL
PKP2 A 100.0 100.0 core-NL
PLN A 100.0 100.0 core-NL
PPA2 A 100.0 100.0
PRDM16 A 100.0 100.0
PRKAG2 A 100.0 100.0 core-NL
RBM20 A 100.0 100.0 core-NL
SCN5A A 100.0 100.0 core-NL
TAFAZZIN A 100.0 100.0 core-NL
TCAP A 100.0 100.0
TMEM43 A 100.0 100.0 core-NL
TNNC1 A 100.0 100.0 core-NL
TNNI3 A 100.0 100.0 core-NL
TNNI3K A 100.0 100.0
TNNT2 A 100.0 100.0 core-NL
TPM1 A 100.0 100.0 core-NL
TRIM63 A 100.0 100.0
TTN A 100.0 100.0 core-NL
TTR A 100.0 100.0 core-NL
VCL A 100.0 100.0 core-NL
Indication(s)
Arrhythmogenic right ventricular dysplasia/cardiomyopathy ARVD/ARVC
Cardiomyopathy CM
Dilated cardiomyopathy DCM
Hypertrophic cardiomyopathy HCM
Non compaction cardiomyopathy NCCM
Restrictive cardiomyopathy RCM
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


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