Because neuronal ceroid lipofuscinoses are "orphan" diseases, they are often misdiagnosed. In several countries cases of NCL are suspected but suitable diagnostic techniques are still not available.
Early diagnosis of NCL allows families to prepare themselves for the as yet fatal course of the disease. Knowledge that the DNA error can be passed on can also be taken into account in future family planning. In addition, it can be assumed that once a therapy is developed, the sooner it is begun the more effective it will be.
Certain forms of NCL can be detected by a simple enzyme test. More information can be obtained from a blood smear. For very rare forms the electron microscope is even used. The final diagnosis is made by identification of the mutation at the DNA level by specific PCR reactions. More details can be found at http://ncl-netz.de/diagnostik.htm.