Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Dilated and Arrhythmogenic cardiomyopathy

Clinical Indication ID & Name

R132

Dilated and Arrhythmogenic cardiomyopathy

Test Group

Cardiology

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

gos-tr.norththamesgenomics@nhs.net

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