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 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.
To attend, register here: http://www.strand-ngs.com/webinar_registration
About Speaker: Dr. Aparna Ganapathy is Senior scientist- Clinical Diagnostics at Strand Life Sciences. She has over 8 years of experience in human genetics and molecular biology. She received her Ph.D. in Human Molecular Genetics from Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore. At Strand Life Sciences, she is involved in the interpretation and clinical reporting of the genetic disorders. The focus of these genetic tests is to provide accurate and rapid clinical diagnosis for various inherited disorders.