The Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad organized a workshop under the aegis of the Indian Academy of Pediatrics, DBT Mission Program on Pediatric Rare Genetic Disorders (PRaGeD), and the Society for Indian Academy of Medical Genetics. The workshop was attended by more than 100 delegates from Pediatrics and various other medical disciplines. All aspects of genetic testing, right from basic modalities like karyotyping to advanced tests such as next-generation sequencing and optical genome mapping were discussed and their importance in the diagnosis & management of patients was highlighted.The importance of the DBT PRaGeD program in making genetic diagnosis and appropriate management for rare genetic disorders accessible to all strata of society, was emphasised.
