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Genetic testing for Brugada syndrome (R128)

Brugada syndrome is an inherited arrhythmogenic disorder, characterised by ST-segment elevation on ECG, incomplete right bundle-branch block, and increased risk of sudden cardiac death as the result of ventricular fibrillation (VF) often during sleep.

Background information

SCN5A is considered to be the only definitive Brugada syndrome gene and is the only gene screened. Genetic testing of SCN5A has a clinical sensitivity of approximately 20 percent.

Both missense and copy number variants have been identified.

Testing strategy

Clinically affected probands:

R128 - Singleton analysis of one gene. Data from the entire coding region of the main transcript of SCN5A is always included.

Targeted analysis for known / previously reported familial variants:

Family testing in clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)
Diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
Segregation studies in affected family members to aid variant interpretation (R375)
Prenatal diagnosis for families with a pathogenic or likely pathogenic variant identified (R240 and R321 Maternal cell contamination)

Target reporting times

42 calendar days for diagnostic screening of affected individuals
42 calendar days for diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
14 calendar days for presymptomatic testing of clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)

Turnaround times for genetic / genomic testing