CLINICAL EXOME SEQUENCING (O.S.)

Overview

Clinical exome sequencing is a genetic test that identifies disease causing DNA variants in the genome such as coding regions (exons) & splice junctions. It covers a limited number of genes. This test is useful for the genetic assessment of rare undiagnosed disorders and syndromes with overlapping phenotypes such as neurological disorders like ataxia, epilepsy, myopathy, movement disorders, intellectual disability etc. There maybe situations where one defective gene causes more than one phenotypic illness. This assay has helped patients to enrol in disease modifying treatments, reproductive counselling & family planning.