Clinical Indication ID & Name
Hypertrophic cardiomyopathy
Test Group
Cardiology
Specialties
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
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