A disease is considered to be ‘rare’ when it affects one in about 2000 individuals in the population. This, individually are although rare, collectively, the incidence could be very high causing a significant socio-economic burden. Arriving at a confirmatory diagnosis is a major challenge in these inherited disorders, which can significantly impact treatment and disease management. Conventional genetic testing for rare diseases focuses mostly on sequencing of fewer genes, followed by a deletion/duplica-tion analysis by multiplex ligation-dependent probe amplifi¬cation (MLPA). This sequential testing strategy is time consuming and very expensive. Multi-gene panel based on NGS (next-generation sequencing) can allow us to detect all types of mutations, including large deletions/duplications, thus allowing us to perform a comprehensive genetic testing in a cost-effective manner. Thus, with the advent of NGS technology, the possibility of offering a ‘single platform solution’ for all types of genetic defects can become a reality.
The webinar on ‘Diagnosis of Rare Diseases using NGS Based Multi-gene Testing- Case studies‘ will highlight some of the interesting case studies wherein multi-gene testing with NGS was helpful in arriving at a confirmatory as well as differential diagnosis, even for complex clinical conditions. With robust bioinformatic analysis, we were able to detect few complex variations in few cases which a conventional test had missed. Some of those cases will also be discussed.