We simultaneously sequence 6 genes known to cause inherited arrhythmogenic right ventricular cardiomyopathy (ARVC). We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.
For individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC) who fulfil the ARVC task force modified criteria (Circulation. 2010;121:1533-1541). On identification of a pathogenic change in an index case presymptomatic testing of relatives can be offered. Referrals should be accompanied by a clinical diagnosis and details of family history. 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 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|
|ARVC (6 gene) panel||POA||POA||112cd|
Test validation & quality assurance - information for users
4ml EDTA blood sample
Please see our referral guidelines for more information.
Gene(s) - DSC2, DSG2, DSP, JUP, PKP2, TMEM43