Cardiomyopathy and arrhythmia: gene panel
Speciality(ies) / Other Speciality(ies)
Cardiology
Pediatrics Cardiology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
228
Test / Mutation List
A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALG10, ALMS1, ALPK3, ANK2, ANKRD1, ANO5, ATP5E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, COA5, COA6, COQ2, COX15, COX6B1, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DLD, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSG3, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GUSB, HAMP, HCN4, HFE, HFE2, HRAS, IDH2, ILK, JPH2, JUP, KCNA1, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNT1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LRRC10, LZTR1, MAP2K1, MAP2K2, MED12, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOM1, MYOT, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NPPA, NRAS, OBSCN, PDHA1, PDLIM3, PHKA1, PITX2, PKP2, PLEKHM2, PLN, PMM2, PPA2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RPL3L, RRAS, RYR2, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN9A, SCO2, SDHA, SEMA3A, SGCA, SGCB, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC40A1, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TGFB3, TJP1, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK
TAT
2 to 3 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.