Next Generation Sequencing in the Diagnosis of Familial Hypercholesterolemia

• Main Authors: Maritza Jenny Hernández-Cuevas, Carlos Alberto Matías-Cervantes, Iván Antonio García-Montalvo
• Format: Article
• Language: English
• Published: Asociación Para el Progreso de la Biomedicina 2019-09-01
• Series: Jounal of Negative and No Positive Results
• Subjects: Familial hypercholesterolemia; Sequencing of next generation; genes; hyperlipemia
• Online Access: https://www.jonnpr.com/PDF/3072.pdf
• ISSN: 2529-850X; 2529-850X

Objective. To present a systematic review of published studies related to the genetic approach of Familial Hypercholesterolemia (FH) and the inclusion of Next Generation Sequencing (NGS) as support for the diagnosis of the pathology. Results. Familial hypercholesterolemia (FH) is a disorder that occurs in most cases due to mutations in genes that code for the LDL receptor, this can be transmitted in an autosomal dominant or autosomal recessive manner, the relevance of its diagnosis is that affected people have a high frequency of premature coronary disease, significantly reducing their life expectancy, genetic diagnosis could allow demonstrating functional defects in the LDL receptor gene, constituting the definitive confirmation of the diagnosis, and the inclusion of new technologies, such as next-generation sequencing (NGS) can give rise to new variants in the genes already known or new candidate genes that could participate in the development of FH. Conclusions. The clinical potential that can be obtained with the use of this technology is aimed at a more efficient and timely diagnosis for a patient or his family, which may serve to prevent or establish the best strategies for the approach of the pathology, however, It is still a technology that is considered high in terms of cost, which hinders access for the population.