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Arrhythmogenic cardiomyopathy: gene panel

Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM
Gene Number

17

Test / Mutation List

CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, MIB1, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN

TAT

3 to 4 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.