Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

Conclusions Mendeliome sequencing was successfully used to disentangle the underlying cause of severe neonatal lactic acidosis. Indeed, it is one of several targeted sequencing approaches that allow rapid and reliable counseling of the parents, adaptation of the clinical management, and renunciation of unnecessary, potentially invasive and often costly diagnostic measures.

http://link.springer.com/10.1186/s40348-016-0050-x

Source: Molecular and Cellular Pediatrics - June 16, 2016 Category: Cytology Source Type: research