Cardiomyopathies General Panel [204 genes]

It covers the entire spectrum of cardiomyopathy presentations (hypertrophic, dilated, restrictive, arrhythmogenic, and non-compaction). It also includes RASopathies, storage diseases, and some mitochondrial disorders of nuclear DNA origin, which may present a cardiomyopathy as one of the main manifestations.

This panel is aimed at the diagnosis of cases presenting some degree of myocardial involvement, but where the phenotype is not completely clear or there are some diagnostic uncertainties. It should also be considered when there is overlapping between phenotypes either in the patient or in the family, which is not infrequent in clinical practice. It is useful since:

• The genetic study allows confirming the clinical suspicion and is also an important tool for differential diagnosis of the disease.
• Proper and correct diagnosis of the disease allows for risk stratification.
• When a pathogenic mutation is detected, it can be used as a predictive test. It is useful for genetic counselling, since it allows detecting carriers at risk who should undergo appropriate clinical monitoring