Exclusive: whole genome sequencing could end ‘diagnostic odyssey’ of multiple tests that still do not give precise diagnosis
A simple test could end years of uncertainty for people with relatively common neurological conditions, new research has found.
Historically, obtaining a definitive diagnosis for conditions including Huntingdon’s disease and some forms of amyotrophic lateral sclerosis has been difficult, because, although the cause of the symptoms is genetic, knowing which test to carry out has resulted in delays of many years.
