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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

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

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

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/

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