While ancillary testing helps to narrow the differential diagnosis, final confirmation of NP-C requires demonstration of characteristic intralysosomal accumulation of unesterified cholesterol (based on filipin staining in cultured skin fibroblasts) and/or the identification of one or more disease-causing mutations in either the NPC1 or NPC2 genes [1, 2]. The gene discussed is NPC1; the disease is nasopharyngeal carcinoma.