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
Sample requirements and referral information
All non NHSE referrals should be accompanied by a completed referral form.
Requesting specialties:
- Cardiology
- Clinical Genetics
- Paediatrics
- Electrophysiology
- Pathology
- Coroners
