Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Introduction

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.

Referral information

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.

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
ARVC (6 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) - 107970, 125645, 125671, 125647, 173325, 602861, 612048

Gene(s) - DSC2, DSG2, DSP, JUP, PKP2, TMEM43

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