Role of Molecular Diagnostics in Genetic Disorders

Molecular diagnostics is rapidly emerging field of diagnostics . Detection of genomic variants is generally performed to facilitate detection, diagnosis, prognosis, disease monitoring and monitoring, response to therapy. The fruitful interplay among laboratory medicine, genomics knowledge, and technology in the field of molecular genetics has given rise to Molecular Diagnostics. All these factors contribute to the identification and fine characterization of the genetic basis of inherited diseases which, in turn, is vital for the accurate diagnosis. These results allow physicians to not only assess disease predisposition but also to design and implement accurate diagnostic methods and to individualize therapeutic treatment modalities. The various methods or techniques used in the field of Molecular Diagnostics are Next Generation Sequencing (NGS), Sanger Sequencing, Real- time PCR, FISH etc. NGS comprises of whole-genome sequencing (WGS), whole-exome sequencing (WES) and custom designed targeted sequencing. This talk would provide an overview of the molecular diagnostics field and of the molecular diagnostic methods that are being used for patients with genetic disorders. Discussion of these tests and cases will be the highlight of the talk.

Author(s): Smita Kulkarni Umarji 

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