Clinical Exome -10000 genes

There are more than 7000 rare diseases and approximately 80% are linked to genetic causes. Diagnosing rare disease patients can often be difficult – resulting in a lengthy diagnostic odyssey. 

Next Generation Sequencing technology has made exome studies easier and more accurate. Exome analysis has empowered the discovery of potential genomic targets for drug development for the management of rare genetic disorders.

Clinical Exome Sequencing is a Next Generation Sequencing-based high-end genetic test that aims at identifying genetic variations that have a high likelihood of being disease-causing. Our Clinical Exome Sequencing Panel covers  10,000 disease-associated genes, enabling definitive diagnosis and prognosis. With a  mean depth of coverage greater than 80x to 100x, it covers all the critically important exonic variants along with regulatory regions and functionally important intergenic and intronic regions combined with high-quality databases to produce relevant output.