The value of diagnostic testing for parents of children with rare genetic diseases.
Deborah A MarshallKaren V MacDonaldSebastian HeidenreichTaila HartleyFrançois P BernierMeredith K GillespieBrenda McInnesA Micheil InnesChristine M ArmourKym M BoycottPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Timely access to ES could reduce the diagnostic odyssey and associated costs. Before ES is incorporated routinely into care for patients with rare diseases in Canada and more broadly, there must be a clear understanding of its value to patients and families.