The PBF-based dysferlin assay is a rapid and cost-effective screening tool for dysferlinopathy that requires strict adherence to sample collection and storage protocols for reliability.
The PBF-based dysferlin assay is a rapid, cost-effective and minimally invasive screening tool, well-suited for use in resource-limited settings. It provides a viable approach for initial screening and variant assessment. As the assay's reliability is influenced by sample quality and storage conditions, proper training in collection techniques and strict adherence to storage protocols are essential for ensuring diagnostic accuracy and enabling broader clinical application.
D'Este et al. (2026) studied this question.