Design
Review
Key result
Genetic testing using next-generation sequencing and early diagnosis prior to clinical manifestation demonstrate an important improvement in the molecular diagnosis of hypertrophic cardiomyopathy.
Authors
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Supports NGS for HCM families; leaves open prospective outcome validation before routine adoption.
Genetic testing using next-generation sequencing has substantially advanced the molecular diagnosis and early detection of hypertrophic cardiomyopathy among family members.
Melas et al. (2022) conducted a review in Hypertrophic cardiomyopathy (HCM). Genetic testing applying next-generation sequencing (NGS) was evaluated. Genetic testing using next-generation sequencing and early diagnosis prior to clinical manifestation demonstrate an important improvement in the molecular diagnosis of hypertrophic cardiomyopathy.