In 236 patients with clinical suspicion of NP-C, De Castro et al. [47] diagnosed 10 patients (4.2%) based on plasma chitotriosidase (ChT) and C-C motif chemokine ligand 18 (CCL18/PARC) levels alongside NP-C SI assessments. The gene discussed is CHIT1; the disease is nasopharyngeal carcinoma.