TABLE 10.

Genetic diagnosis of familial hypercholesterolemia in India.

Case numbers	Age	Male	Diagnosis criteria	Genotyping	Main Findings	References
100	39 (3–74)	63 (63.0%)	Dutch Lipid Clinic Network criteria (adapted for the Indian population)	Sanger sequencing, MLPA, and NGS	Genetic mutations were identified in 47 cases (47.0%). Based on modified Dutch Lipid Clinic Network criteria, mutations were detected in 91.4% of definite FH cases, in 40% of probable FH cases, and in 18.8% of possible FH cases.	Setia et al., 2020

FH, familial hypercholesterolemia; MLPA, Multiplex ligation dependent probe analysis; NGS, next generation sequencing.