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.
NHSE funded test referrals should meet the relevant NHSE eligibility criteria (pdf).
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
Specimen requirements and referring samples
Price list for non NHSE referrals (pdf)
Contact us
Oxford Genetics Laboratories - Contact us
Specific enquiries
Email: OxfordCardiac@nhs.net
Last reviewed:02 August 2021