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. 2022 Apr 4;24(8):1307–1367. doi: 10.1093/europace/euac030
Recommendation Consensus statement instruction Ref.
Genetic testing with sequencing of SCN5A is recommended for an index case diagnosed with BrS with a type I ECG in standard or high precordial leads occurring either (i) spontaneously, or (ii) induced by sodium-channel blockade in presence of supporting clinical features or family history. graphic file with name euac030ilf1.jpg 21, 171
Rare variants in genes with a disputed or refuted gene-disease clinical validity should not be reported routinelya for BrS genetic testing in a diagnostic setting. graphic file with name euac030ilf3.jpg 21
Targeted sequencing of variant(s) of unknown significance in SCN5A with a population allele frequency <1 × 10−5 identified in an index case can be considered concurrently with phenotyping for family members, following genetic counselling, to assess variant pathogenicity through co-segregation analysis. graphic file with name euac030ilf2.jpg 172
Variant-specific genetic testing is recommended for family members and appropriate relatives following the identification of the disease-causative variant. graphic file with name euac030ilf1.jpg Expert opinion
Predictive genetic testing (of pathogenic SCN5A variants) in related children is recommended from birth onward (any age). graphic file with name euac030ilf2.jpg Expert opinion
a

Unless in a research setting.