Cardiff Uni. Understanding Diagnostic Odyssey

Understanding the diagnostic odyssey experienced by families impacted by 22q11.2 deletion syndrome

Cardiff Univ researchResearch has shown that people with 22q11.2 deletion syndrome can wait up to 20 years for a genetic diagnosis. We are interested in speaking to parents and carers of people affected with the condition, and hearing their experiences of the UK healthcare system. We are particularly interested in learning about your journey towards obtaining a diagnosis, and how this could have been improved. The information collected could inform healthcare practice in the future, and improve the support given to families.

Participant information sheet:

Consent Form

SMREC ethics approval November 2019