The targeted gene testing utilises next-generation sequencing to detect single nucleotide and copy number variants in 13 genes associated with primary hypertriglyceridaemia and related conditions: APOA5, APOC2, APOE, APOB, CREB3L3, GPD1, GPIHBP1, LCAT, LIPA, LIPC, LMF1, LPL, and LRP6 (9). The gene discussed is LIPA; the disease is hypertriglyceridemia.