Clinical Indication ID & Name
Arrhythmogenic right ventricular cardiomyopathy
Test Group
Cardiology
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form