Gene sequencing solves five cases of idiopathic liver disease
One patient had endured severe complications for 18 years
Whole exome sequencing may identify genetic causes of unexplained liver disease after an unrevealing conventional work-up, US researchers say.
Whole exome sequencing involves sequencing around 20,000 human protein-encoding genes.
Yale researchers performed whole exome sequencing and deep phenotyping of 19 unrelated adults with idiopathic liver disease who had undergone a comprehensive work-up that did not yield a diagnosis, as reported in the Journal of Hepatology.
Whole exome sequencing yielded an actionable diagnosis in five, all of whom received family counselling.
