Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R133

Arrhythmogenic right ventricular cardiomyopathy

Test Group

Cardiology

Specialties

Cardiology Clinical Genetics

Test code

R133.1

Test name

N/A

Target genes

Arrhythmogenic cardiomyopathy (134)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

A firm clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy as indicated by:
1. An individual meeting a definite diagnosis according to the Modified Task Force Criteria (Marcus et al 2010; PMID: 20172912), with age of onset below age 50 OR
2. A deceased individual with pathologically confirmed ARVC and relatives who will benefit from cascade testing using genetic diagnosis. OR
3. Identification of a pathogenic or likely pathogenic variant in an ARVC associated gene would complete diagnostic task force criteria for ARVC.

Testing should be carried out in parallel with expert phenotypic assessment, for example in an Inherited Cardiac Clinic (ICC), including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an ICC MDT

Test code

R133.2

Test name

N/A

Target genes

Arrhythmogenic cardiomyopathy (134)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

A firm clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy as indicated by:
1. An individual meeting a definite diagnosis according to the Modified Task Force Criteria (Marcus et al 2010; PMID: 20172912), with age of onset below age 50 OR
2. A deceased individual with pathologically confirmed ARVC and relatives who will benefit from cascade testing using genetic diagnosis. OR
3. Identification of a pathogenic or likely pathogenic variant in an ARVC associated gene would complete diagnostic task force criteria for ARVC.

Testing should be carried out in parallel with expert phenotypic assessment, for example in an Inherited Cardiac Clinic (ICC), including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an ICC MDT

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Contact with queries

rbh-tr.genomics@nhs.net / geneticslab@rbht.nhs.uk

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Cardiology and Respiratory Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old