A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film

Abstract The assessment of dysferlin expression is useful to indicate or confirm the diagnosis of dysferlinopathies, a class of muscular diseases caused by mutations in the DYSF gene. Immunoblot analysis of skeletal muscle or monocytes is a specific and reliable diagnostic indicator of the disease, but the technique is specialized and laborious. We have developed a novel, robust immunoassay for detection of dysferlin in neutrophils requiring as little as one drop of blood. Our assay overcomes the issues of storage and handling of samples suggesting great promise as an inexpensive and rapid first screening for DYSF mutations. This relatively simple non-quantitative assay has the potential to benefit centers with limited resources, contributing to current diagnostic investigations into dysferlinopathies.