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Brugada syndrome: gene panel

Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM
Gene Number

42

Test / Mutation List

ABCC9, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, DPP6, FGF12, GPD1L, HCN4, IRX5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2, PXDNL, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TRDN, TRPM4

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.