Immunodiagnostic determination of usher syndrome type IIA

摘要

Methods and test kits for determining whether an individual has or is at risk for developing Usher syndrome Type IIa. The methods include obtaining a biological sample from an individual, incubating the biological sample with at least one antibody which is immunoreactive with an USH2a protein under conditions effective to produce immunoconjugates if the usherin protein is present, evaluating for the presence or absence of immunoconjugates, and correlating the presence of immunoconjugates with the individual not having Usher syndrome Type IIa, and the absence of immunoconjugates with the individual having or being at risk for developing Usher syndrome Type IIa.