Whole genome sequencing (WGS) is the genetic test that determines the order of all 3 billion letters in a person’s DNA, and is a technology that has become well known to the rare disease community.  It can reveal not only the genes responsible for production of an abnormal protein associated with a disease, but also the presence of other abnormal genes or variations in gene structure and regulation.  Success stories describing the use of this technology to help some individuals with rare diseases overcome the “odyssey of diagnosis” have been widely reported (links below) with understandably great enthusiasm, and this technology holds enormous promise for continuing to uncover the underlying causes of rare diseases. read more >