Diagnosing NP-C is not straightforward, and because of the highly heterogeneous nature of its manifestations this disease is often confused with other neurological diseases, or goes undetected altogether. Consequently, the true number of cases of NP-C may unfortunately be higher than currently thought. The diagnostic tests required to confirm NP-C, listed below, are complicated, and can only be carried out at a very limited number of highly specialized laboratories. Hopefully, new diagnostic tests will be developed that will allow easier and faster diagnosis of NP-C in the future.
Laboratory tests performed to confirm a suspected NP-C clinical diagnosis may include: