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. | 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. | 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. | 172 | |
Variant-specific genetic testing is recommended for family members and appropriate relatives following the identification of the disease-causative variant. | Expert opinion | |
Predictive genetic testing (of pathogenic SCN5A variants) in related children is recommended from birth onward (any age). | Expert opinion |
Unless in a research setting.