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UR Medicine


Genetic Testing for Batten Disease


The diagnosis of most forms of Batten disease is based on genetic (DNA) testing, enzyme assay, or both. At the University of Rochester, we have developed the capability to screen rapidly for the major mutation associated with Juvenile Batten disease or JNCL. Currently, Dr. Paul Rothberg at the University of Rochester has developed the necessary tools to identify less common mutations in CLN3, as well as mutations in the PPT1 (CLN1) and TPP1 (CLN2) genes. Mutations will be checked against existing mutations using the NCL mutation database.

We collaborate with other groups who perform enzyme assays of PPT1 and TPP1 when needed. We also collaborate with other groups to test for genetic mutations causing less common forms of Batten disease.

Families seen at the Batten Disease Diagnostic and Clinical Research Center have the opportunity to meet with a genetic counselor for additional education on how Batten disease is inherited, and the risk of having other family members develop the disease.