Gen-Panel
Kardiomyopathien, umfassende Diagnostik: ID027.05, 154 Gene
ABCC9,
ACTA1,
ACTC1,
ACTN2,
ALPK3,
ANKRD1,
APOA1,
B2M,
BAG3,
BAG5,
BRAF,
CACNA1C,
CACNB2,
CALR3,
CAP2,
CASQ2,
CAV3,
CDH2,
COA5,
COA6,
CORIN,
COX15,
CRYAB,
CSRP3,
CTF1,
CTNNA3,
DES,
DMD,
DMPK,
DNAJC19,
DOLK,
DPM3,
DSC2,
DSG2,
DSP,
DTNA,
EMD,
EYA4,
FGA,
FHL1,
FHL2,
FHOD3,
FKRP,
FKTN,
FLII,
FLNC,
FTH1,
FXN,
GAA,
GATA4,
GATAD1,
GET3,
GLA,
GSN,
HADHA,
HAMP,
HCN4,
HFE,
HJV,
HRAS,
ILK,
JPH2,
JUP,
KCNQ1,
KIF20A,
KLF10,
KLHL24,
KRAS,
KY,
LAMA4,
LAMP2,
LDB3,
LIMS2,
LMNA,
LMOD2,
LRRC10,
LYZ,
LZTR1,
MAP2K1,
MAP2K2,
MAPK1,
MCM10,
MIB1,
MRAS,
MYBPC3,
MYH6,
MYH7,
MYL2,
MYL3,
MYLK2,
MYOM1,
MYOT,
MYOZ2,
MYPN,
NEBL,
NEXN,
NKX2-5,
NNT,
NONO,
NPPA,
NRAS,
OBSCN,
PDLIM3,
PKP2,
PLEKHM2,
PLN,
PPCS,
PRDM16,
PRKAG2,
PSEN1,
PSEN2,
PTPN11,
PYROXD1,
RAF1,
RBM20,
RIT1,
RPL3L,
RRAS2,
RYR2,
SCN5A,
SCO2,
SDHA,
SGCD,
SHOC2,
SLC25A4,
SLC40A1,
SOS1,
SOS2,
SPRED2,
SVIL,
SYNE1,
SYNE2,
TAFAZZIN,
TBX5,
TBX20,
TCAP,
TFR2,
TGFB3,
TJP1,
TMEM43,
TMEM70,
TMPO,
TNNC1,
TNNI3,
TNNI3K,
TNNT2,
TPM1,
TRIM63,
TRPM4,
TTN,
TTR,
UNC45B,
VCL,
VEZF1
Inkludierte Phänotypen
Arrhythmogene rechtsventrikuläre Kardiomyopathie (ARVC, ARVD): 27 Gene
ACTC1,
CDH2,
CTNNA3,
DES,
DSC2,
DSG2,
DSP,
FLNC,
JUP,
LDB3,
LMNA,
MYBPC3,
MYH7,
MYL2,
MYL3,
PKP2,
PLN,
RYR2,
SCN5A,
TGFB3,
TJP1,
TMEM43,
TNNC1,
TNNI3,
TNNT2,
TPM1,
TTN
Dilatative Kardiomyopathie (DCM, CMD): 68 Gene
ABCC9,
ACTC1,
ACTN2,
ANKRD1,
BAG3,
BAG5,
CAP2,
CRYAB,
CSRP3,
DES,
DMD,
DSG2,
DSP,
DTNA,
EMD,
EYA4,
FKTN,
FLII,
FLNC,
GATAD1,
GET3,
HFE,
ILK,
JPH2,
LAMA4,
LAMP2,
LDB3,
LMNA,
LMOD2,
LRRC10,
MIB1,
MYBPC3,
MYH6,
MYH7,
MYL2,
MYL3,
MYPN,
NEBL,
NEXN,
NKX2-5,
OBSCN,
PDLIM3,
PKP2,
PLEKHM2,
PLN,
PPCS,
PRDM16,
PSEN1,
PSEN2,
RAF1,
RBM20,
RPL3L,
SCN5A,
SDHA,
SGCD,
SYNE1,
TBX20,
TCAP,
TMEM43,
TMPO,
TNNC1,
TNNI3,
TNNI3K,
TNNT2,
TPM1,
TTN,
VCL,
VEZF1
Hypertrophe Kardiomyopathie (HCM, CMH): 56 Gene
ABCC9,
ACTC1,
ACTN2,
ALPK3,
ANKRD1,
BAG3,
CACNA1C,
CALR3,
CAV3,
CORIN,
CRYAB,
CSRP3,
DES,
DSP,
FHL1,
FHOD3,
FLNC,
GAA,
GLA,
JPH2,
KLF10,
KLHL24,
KRAS,
LAMP2,
LDB3,
MAP2K1,
MRAS,
MYBPC3,
MYH6,
MYH7,
MYL2,
MYL3,
MYLK2,
MYOM1,
MYOZ2,
MYPN,
NEXN,
OBSCN,
PDLIM3,
PLN,
PRKAG2,
PTPN11,
RAF1,
RIT1,
RYR2,
SLC25A4,
TCAP,
TMPO,
TNNC1,
TNNI3,
TNNT2,
TPM1,
TRIM63,
TTN,
TTR,
VCL
Nichtdilatierte linksventrikuläre Kardiomyopathie (NDLVC, LVNC): 35 Gene
ACTC1,
ACTN2,
DES,
DMD,
DMPK,
DSP,
DTNA,
FLNC,
GATA4,
HCN4,
ILK,
LDB3,
LMNA,
MIB1,
MYBPC3,
MYH7,
MYL2,
MYL3,
NKX2-5,
NNT,
NONO,
OBSCN,
PLN,
PRDM16,
RBM20,
RYR2,
SCN5A,
TAFAZZIN,
TBX5,
TBX20,
TMEM43,
TMEM70,
TNNT2,
TPM1,
TTN
Restriktive Kardiomyopathie (RCM): 15 Gene
ACTC1,
BAG3,
DES,
FLNC,
KIF20A,
MYBPC3,
MYH7,
MYL2,
MYL3,
MYPN,
TNNI3,
TNNT2,
TPM1,
TTN,
TTR
