TABLE 7.

Genetic diagnosis of familial hypercholesterolemia in Singapore.

Case numbers	Age	Male	Diagnosis criteria	Genotyping	Main Findings	References
96	33	77 (80.2%)	Simon Broome criteria or LDL-C > 4.9 mmol/L with unknown family history	NGS in 26 lipid-related genes	Among them, 50 patients (52.1%) had LDLR mutations and 4 patients (4.2%) had APOB mutations.	Pek et al., 2018

APOB, apolipoprotein B; LDL-C, low-density lipoprotein cholesterol; LDLR, low-density lipoprotein receptor; NGS, next generation sequencing.