Next-generation genetic sequencing enhances diagnosis of leukodystrophy and leukoencephalopathy

Next-generation sequencing (NGS) should be considered a first-line diagnostic tool in the diagnosis of leukodystrophy and leukoencephalopathy, according to researchers presenting new data at the AOCN-IANCON conference.

Using a single DNA-based test with targeted exome capture, and parallel sequencing for high-throughput, NGS has the potential to accelerate the diagnostic process, said researchers at the Sree Chitra Tirunal Institute for Medical Sciences and Technology in Thiruvananthapuram, India.