Phenotype-led genetic testing can clarify diagnosis, inform surveillance and connect relatives to appropriate care. Testing is paired with a three-generation pedigree and genetic counselling.
Scientific interpretation framework
A clear framework helps visitors distinguish measurement, evidence and responsible translation into care or research.
Evidence level
Each finding is assessed against peer-reviewed literature, professional guidance, analytical validity and the maturity of clinical evidence. Research signals are identified explicitly and are not presented as established care.
Biological and clinical context
Molecular data are interpreted together with phenotype, family history, medicines, imaging, laboratory measurements and population context. No biomarker is meaningful in isolation.
Responsible output
Reports state the method, result, uncertainty, limitations and appropriate next step. Clinically relevant findings require qualified review; research models require validation before use in patient decisions.
Inherited cardiomyopathy panel
For hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathies, and left ventricular non-compaction. Supports diagnosis, family screening and genotype-aware risk discussions.1
Inherited arrhythmia panel
For long QT, Brugada, catecholaminergic polymorphic ventricular tachycardia and short QT syndromes; particularly relevant after syncope, unexplained VT, cardiac arrest or familial sudden death.2
Familial hypercholesterolaemia
Identifies common monogenic causes of lifelong high LDL-C and enables cascade testing. A negative panel does not exclude clinical FH.3
Heritable aortic disease
For Marfan, Loeys–Dietz and familial thoracic aortic disease. Genotype may inform surveillance and gene-specific management.4
Congenital heart disease
A tailored pathway using chromosomal, targeted or exome/genome testing according to cardiac and extracardiac phenotype.5
Variant interpretation and reanalysis
Variants are classified using validated evidence frameworks, including population frequency, functional evidence, segregation and the strength of the gene–disease relationship. A variant of uncertain significance must not be used for predictive testing or major irreversible decisions. Reanalysis may be appropriate when knowledge, phenotype or family information changes.2
Cascade testing and longitudinal care
When a pathogenic or likely pathogenic familial variant is established, targeted testing can distinguish relatives who require genotype-informed surveillance from those who do not carry that familial variant. Clinical screening remains important when no molecular cause is found or when penetrance is age dependent.1
- Arbelo, E. et al. 2023 ESC Guidelines for cardiomyopathies. Eur. Heart J. 44, 3503–3626 (2023). doi:10.1093/eurheartj/ehad194
- Wilde, A. A. M. et al. Expert consensus on genetic testing for cardiac diseases. Europace 24, 1307–1367 (2022). doi:10.1093/europace/euac030
- Watts, G. F. et al. Best practice in familial hypercholesterolaemia care. Nat. Rev. Cardiol. 20, 845–869 (2023). doi:10.1038/s41569-023-00892-0
- Isselbacher, E. M. et al. 2022 ACC/AHA aortic disease guideline. Circulation 146, e334–e482 (2022). doi:10.1161/CIR.0000000000001106
- Pierpont, M. E. et al. Genetic basis for congenital heart disease: revisited. Circulation 138, e653–e711 (2018). doi:10.1161/CIR.0000000000000606