MOMA Hjertepanel v3, gælder fra 2015-10-05 til 2018-08-14
NGS Panelet indeholder 111 hjerte-relaterede gener, alle nedenstående gener i delpanelerne er inkluderet.
Se genliste (pdf)
Kardiomyopati
ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FKTN, FXN, GATA4, GJA5, GLA, GPD1L, GAA, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NPPA, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RYR2, SGCD, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
DCM, Familiær dilateret kardiomyopati
ACTC1, ANKRD1, BAG3, CSRP3, DES, DMD, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NPPA, PLN , RBM20, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN
HCM, Hypertrofisk kardiomyopati
ACTC1, ANKRD1, CSRP3, JPH2, MYBPC3, MYH6, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, RAF1, SGCD, TCAP, TNNI3, TNNT2, TPM1
ARVC, Arytmogen højre ventrikel kardiomyopati
DES, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43
Primær arvelig arytmi
ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DPP6, GPD1L, HCN1, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, NKX2-5, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLC22A5, SLC8A1, SNTA1, TBX5, TRDN, TRPM4
LQTS, Langt QT syndrom
AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE5, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B , SCN5A, SNTA1, TRDN
SQTS, Kort QT syndrom
ABCC9, CACNA1C, CACNB2, KCNJ2, KCNQ1
BrS, Brugada syndrom
CACNA1C, CACNA2D1, CACNB2, GPD1L, KCND3, KCNE1, KCNE2, RANGRF, SCN10A, SCN1B, SCN3B, SCN4B, SCN5A
CPVT, Katecholaminerg polymorf ventrikulær takykardi
CALM1, CALM2, CALM3, CASQ2, RYR2, TRDN
ERS, Tidlig repolarisationssygdom
ABCC9, CACNA1C, CACNB2, SCN5A
PCCD, Progressive kardielle overledningsforstyrrelser
KCNA5, LMNA, NKX2-5, SCN5A, TBX5
Familiær hyperkolesterolæmi
APOB, LDLR, PCSK9
Amyloidosis
TTR