First application of next-generation sequencing in patients with hypertrophic cardiomyopathy in Morocco and report of a novel frameshift mutation of MYBPC3 gene: Case report

ConclusionMolecular diagnosis by NGS customized multigenes panel allowed us to set up a fast and firstline upon request cost-efficient strategy in order to screen various genes and diseases including HCM. This approach is well suited to general medical genetics laboratories dealing with almost all types of rare genetic diseases with limited funds for a molecular testing more cost-effective.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research