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.

Hypertrophic cardiomyopathy

Clinical Indication ID & Name

R131

Hypertrophic cardiomyopathy

Test Group

Cardiology

Test code

R131.1

Test name

N/A

Target genes

Hypertrophic cardiomyopathy - teen and adult (49)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

A firm clinical diagnosis of hypertrophic cardiomyopathy as indicated by:
1. An adult with wall thickness ≥15 mm in one or more LV myocardial segments, that is NOT explained solely by loading conditions (principally hypertension), with age of onset below 60
2. A child under the age of 18 with LV wall thickness more than two standard deviations greater than the
predicted mean (z-score >2, where a z-score is defined as the number of standard deviations from the population mean)
3. Otherwise unexplained increased LV wall thickness ≥13 mm in one or more LV myocardial segments, in a patient with a first degree relative with unequivocal disease (LVH ≥15 mm), where a family member with unequivocal disease is unavailable for testing
4. A deceased individual with pathologically confirmed HCM for post-mortem DNA analysis

Genetic testing is recommended in patients meeting the above criteria who have relatives who will benefit from cascade testing using a genetic diagnosis.
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

R131.2

Test name

N/A

Target genes

Hypertrophic cardiomyopathy - teen and adult (49)

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 hypertrophic cardiomyopathy as indicated by:
1. An adult with wall thickness ≥15 mm in one or more LV myocardial segments, that is NOT explained solely by loading conditions (principally hypertension), with age of onset below 60
2. A child under the age of 18 with LV wall thickness more than two standard deviations greater than the
predicted mean (z-score >2, where a z-score is defined as the number of standard deviations from the population mean)
3. Otherwise unexplained increased LV wall thickness ≥13 mm in one or more LV myocardial segments, in a patient with a first degree relative with unequivocal disease (LVH ≥15 mm), where a family member with unequivocal disease is unavailable for testing
4. A deceased individual with pathologically confirmed HCM for post-mortem DNA analysis

Genetic testing is recommended in patients meeting the above criteria who have relatives who will benefit from cascade testing using a genetic diagnosis.
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

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