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Dilated cardiomyopathy (extended panel): gene panel

Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM
Gene Number

99

Test / Mutation List

ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CAV3, CAVIN4, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EPG5, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, GATA4, GATA6, GATAD1, GLA, HAMP, HCN4, HFE, HFE2, IDH2, ILK, JUP, KCND3, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MED12, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ1, MYPN, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PKP2, PLEKHM2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, RAB3GAP2, RAF1, RBM20, RYR2, SCN1B, SCN5A, SDHA, SGCA, SGCB, SGCD, SLC22A5, SLC40A1, SOS1, SYNE1, SYNE2, TAZ, TCAP, TFR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL, XK

TAT

4 to 5 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.