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The article ‘‘Clinical and genetic diagnosis of familial hypertrophic cardiomyopathy: results in pediatric cardiology’’ by Cardoso et al. published in this issue of the Journal is a good illustration of the current and future implications of genetic tests. Genetic testing, mainly regulated in Portugal by Act 12/2005 and Decree-Law 131/2014, is becoming increasingly common as a complementary or first-line diagnostic method and continues to develop rapidly. This can be seen in the case of hypertrophic cardiomyopathy (HCM), in which sequencing of the entire coding region and intron/exon boundaries of seven genes is now routinely performed to screen for pathogenic or potentially pathogenic mutations that are found in 60-65% of cases. Increasing the number of genes studied shows only marginal gains -60-70% positivity for 29 genes. Whole exome sequencing will shortly be generally

Os testes genéticos na avaliação de doentes e familiares – o exemplo da miocardiopatia hipertrófica