Clinical Indication ID & Name
Dilated and Arrhythmogenic cardiomyopathy
Test Group
Cardiology
Specialties
Test code
R132.1
Test name
N/A
Target genes
Dilated cardiomyopathy - teen and adult (652)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
A firm clinical diagnosis of dilated cardiomyopathy (DCM) or arrhythmogenic cardiomyopathy (ACM) as indicated by:
1. Left ventricular end diastolic diameter (LVEDD) greater than 2 standard deviations, AND
a. Reduced ejection fraction (EF) to less than 45%, adjusted for age and sex, AND
b. Age of onset below 50 years, OR
c. DCM with conduction defects, with age of onset below 65 years OR
2. Left and/or biventricular cardiomyopathy associated with variable degrees of myocardial dysfunction and/or myocardial fibrosis PLUS ventricular arrhythmias (including prior cardiac arrest) following exclusion of other aetiologies including inflammatory disorders OR
3. A deceased individual with pathologically confirmed DCM or ACM and age of onset below 50 years suitable for post-mortem DNA analysis.OR
4. Patient with DCM or ACM at any age if they have a first degree relative with confirmed diagnosis of DCM or ACM
Genetic testing is recommended for patients meeting the above criteria with:
1. Relatives who will benefit from cascade testing using genetic diagnosis, AND/OR
2. Features suggesting an increased risk of sudden death, including conduction defects, atrial arrhythmia or family history of sudden death
Patients with ventricular dilatation secondary to coronary artery disease or pressure/volume overload should NOT be tested
Patients with DCM due to other precipitants (such as myocarditis, alcohol, peripartum, chemotherapy) should only be tested following consultation with an expert
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
R132.2
Test name
N/A
Target genes
Dilated cardiomyopathy - teen and adult (652)
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 dilated cardiomyopathy (DCM) or arrhythmogenic cardiomyopathy (ACM) as indicated by:
1. Left ventricular end diastolic diameter (LVEDD) greater than 2 standard deviations, AND
a. Reduced ejection fraction (EF) to less than 45%, adjusted for age and sex, AND
b. Age of onset below 50 years, OR
c. DCM with conduction defects, with age of onset below 65 years OR
2. Left and/or biventricular cardiomyopathy associated with variable degrees of myocardial dysfunction and/or myocardial fibrosis PLUS ventricular arrhythmias (including prior cardiac arrest) following exclusion of other aetiologies including inflammatory disorders OR
3. A deceased individual with pathologically confirmed DCM or ACM and age of onset below 50 years suitable for post-mortem DNA analysis.OR
4. Patient with DCM or ACM at any age if they have a first degree relative with confirmed diagnosis of DCM or ACM
Genetic testing is recommended for patients meeting the above criteria with:
1. Relatives who will benefit from cascade testing using genetic diagnosis, AND/OR
2. Features suggesting an increased risk of sudden death, including conduction defects, atrial arrhythmia or family history of sudden death
Patients with ventricular dilatation secondary to coronary artery disease or pressure/volume overload should NOT be tested
Patients with DCM due to other precipitants (such as myocarditis, alcohol, peripartum, chemotherapy) should only be tested following consultation with an expert
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
R135 Paediatric or syndromic cardiomyopathy should be used where atypical features suggest a broader range of genes should be tested
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
n/a
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