If your physician suspects JNCL, diagnoses is very straightforward. A simple blood test (DNA test), sent to the lab of Dr. Kathy Sims at Massachusetts General Hospital will rule out or confirm JNCL.

This "DNA" test is the only fool proof method for diagnosing JNCL and Massachusetts General Hospital is the primary institution to carry out this procedure.

Few people in the medical profession have heard of JNCL. This makes diagnoses long and confusing for us and for our children. Biopsies, blood tests, ERG, EEG, MRI were used before DNA testing became available and are sadly still most often used for diagnoses in the US.

The majority of our affected children have a large piece of the JNCL gene missing called the 1.02kb deletion. Other deletions have been identified within the JNCL gene. However, children with these different deletions are still affected with JNCL. It is important to know and understand the genetic error carried in your family. Please contact a genetic counselor for explanation of this inheritance.