MedGenome cordially invites you to a webinar on

Role of NGS in diagnosis of

PRIMARY IMMUNODEFICIENCY DISORDERS

Date & Time:

17th April, 4PM

Summary of the talk

Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous group of disorders. The clinical spectrum could range from acutely life-threatening conditions to milder disorders which can present with frequent, severe, and/or unusual infections; with autoimmune, autoinflammatory, or lymphoproliferative phenomena; with or without any dysmorphic features. Often , underdiagnosis and delay in diagnosis contributes to high morbidity and mortality. Early identification of the disease mechanism might enable early protective interventions and potentially targeted or curative therapy.

In cases where initial laboratory testing does not help in diagnosis, there are now newer sophisticated techniques such as Next Generation Sequencing’ (NGS) that can identify the underlying genetic causes. Using NGS in an increasing number of immunodeficiency disorders, the precise mutation in the relevant gene can now be identified and this not only helps to determine the best treatment but also means accurate counselling can be offered to the family, and prenatal tests can be offered in next pregnancy, if requested. Join us for this Webinar where we discuss how NGS can help you in accurate diagnosis of PIDD with technical details and case studies.

Dr. Sheetal Sharda is a Paediatrician and has done her DM in Medical Genetics from SGPGI, Lucknow. She has worked as an Associate Professor in Genetics in PGIMER, Chandigarh for 8 years. She has over 13 years of experience in clinical genetics. She also has about 30 publications in national and international journals to her credit. Her areas of interest are Dysmorphology, Prenatal Diagnosis and Molecular diagnosis.

MedGenome, leaders in genetic testing in India, is a genomics and clinical data driven diagnostics and drug discovery research company founded in 2013. With state-of-the-art Next Generation Sequencing (NGS) facility, MedGenome is one of the highest throughput NGS sequencing & CAP accredited lab for genetic testing in South Asia. MedGenome offers comprehensive diagnostic solutions to researchers, doctors and hospitals and its belief in continuous innovation has led to the development of many new genetic tests. MedGenome’s clinical, phenotypic and genomics data, provide insights into complex diseases and aid in drug discovery. MedGenome, a founding member of GenomeAsia 100K, initiated to sequence 100,000 Genomes in the Asian Population to create gene-pool data for higher research purposes.