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:

  • Biochemical test -This involves taking a piece of skin to grow certain cells (fibroblasts) in the laboratory. The cells are assayed for abnormal cholesterol movement (cholesterol esterification assay) and stained (filipin staining) to detect accumulation of cholesterol.
  • DNA tests - to look for mutations in one of the two genes (NPC1 and NPC2) that code for the two proteins whose abnormal function determines the occurrence of the disease.
 

US RESIDENTS

Please note that the information contained in this section of the website is not intended for US residents. Please visit our US webpage.

Please note that the information contained in this section of the website is not intended for US residents. Please visit our US webpage.