(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada.

Christine Michaels-IgbokweBrenda McInnesKaren V MacDonaldGillian R CurrieFadya OmarBrittany ShewchukFrancois P BernierDeborah A Marshall

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

As genomic technologies expand, the nature of the diagnostic odyssey will change. This study has outlined the current standard of care in the ACH GC, providing a baseline against which future changes can be assessed.

Keyphrases

healthcare
copy number
palliative care
young adults
genome wide
current status
quality improvement
gene expression
pain management
dna methylation