Brugada Syndrome
Introduction
We simultaneously sequence 13 genes known to cause Brugada syndrome. We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.
Referral information
For individuals with clinical features and investigations consistent with diagnosis of Brugada syndrome (European Heart Journal 2002;23:1648-1654). On identification of a pathogenic change in an index case presymptomatic testing of relatives can be offered. Referrals for testing are only accepted from a Consultant Cardiologist or a Consultant Clinical Geneticist (please contact the Clinical Genetics department for specific information). Referrals should be accompanied by a clinical diagnosis and details of family history. Referrals should also be accompanied by a completed standard referral form available in the Referral Forms section. For optimal results please send a fresh EDTA blood sample (1-4ml) or a minimum of 5µg of extracted DNA. For a full list of genes included in the assay please contact the laboratory.
Technical information
Genes are tested by next generation sequencing (more information is available on request). We undertake a complete scientific analysis to highlight variants with a high likelihood of pathogenicity which are subsequently confirmed using conventional Sanger sequencing. On completion of the analysis a report is issued incorporating a clinical interpretation of all pathogenic mutations identified. In addition a technical report is made available to referrers summarising the coverage of the analysis and incorporating a full list of (non-validated) variants.
Price & reporting times
Please contact the laboratory for prices.
| Test | Price (NHS) | Price (non-NHS) | TRT |
| Brugada Syndrome (13 gene) panel | POA | POA | 112cd |
| Bioinformatic Re-analysis | POA | POA |
Test validation & quality assurance - information for users
The laboratory is UKAS assessed against ISO 15189 standards.
Sample requirements
4ml EDTA blood sample
Referral guidelines
Please see our referral guidelines for more information.
OMIM Number(s) - 601144 , 601439, 106410, 114204, 600003, 611778, 605206, 604433, 602861, 600235, 608214, 600163, 604427, 606936
Gene(s) - ABCC9, ANK2, CACNA2D1, CACNB2, GPD1L, HCN4, KCNE3, PKP2, SCN1B, SCN3B, SCN5A, SCN10A, TRPM4