A precise diagnosis of FH is made by a genetic test conducted over a simple blood sample. An expert panel convened by the Familial Hypercholesterolemia Foundation recommends genetic testing as the standard of care for patients who have a definite or probable diagnosis for FH based on clinical factors and family history.

• 100 unrelated patients of Indian origin examined
• 38 mutations in 47 samples detected
• 10 novel variants discovered
• These mutations significantly increase incidence of FH in Indian patient population
• Variations in APOB gene in Indian population different from Western population
• NGS technology helped to identify new mutations in APOB gene, suggesting that in less studied populations it is better to sequence the whole gene rather than test for specific mutations.

• Study demonstrates genetic heterogeneity of FH in India
• The variants observed were different from those described in Western populations
• NGS technology helped to identify new mutations in APOB gene
• Research leads to formation of first ever database of genetic variations for Indian Population

* Setia N, Movva S, Balakrishnan P, Biji IK, Sawhney J, Puri R, Arora A, Puri RD, Saxena R, Mishra S, Apte S, Kulshrestha S, Ramprasad V, Verma IC, Genetic analysis of familial hypercholesterolemia in Asian Indians: a single center study, Journal of Clinical Lipidology (2020)

• Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol. 2004;160:407-420.
• Puri S, Puri S, Rehan HS, et al. Prevalence and pattern of dyslipidemia in 2500 adolescents in suburban India. J Am Col Cardiol. 2015;65:A1486.