Detection of dysferlin gene pathogenic variants in the Indian Population in patients predicted to have a dysferlinopathy using a blood-based monocyte assay and clinical algorithm: A model for accurate and cost-effective diagnosis

In this study, 98.2% of patients with absence of the <i>dysferlin</i> protein showed one or more variants in the <i>dysferlin</i> gene and hence has a high predictive significance in diagnosing dysferlinopathies. However, collection of blood samples from all over India for protein analysis is expensive. Our analysis shows that the use of the "ALDA tool" could be a cost-effective alternative method. Identification of <i>dysferlin</i> pathogenic variants by NGS is the ultimate method for diagnosing dysferlinopathies though follow-up with the monocyte assay can be useful to understand the phenotype in relation to the <i>dysferlin</i> protein expression and also be a useful biomarker for future clinical trials.