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
Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP
Contact with queries
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/
Request form download
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