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.

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