Resolving the diagnostic odyssey in a patient with MNGIE and ring chromosome 22

BACKGROUND
Comprehensive genomic technologies such as genome sequencing have enabled timely diagnoses and improved patient outcomes.

• However, diagnosis for rare diseases relies heavily on phenotypic assessment, specific clinical guidelines for genetic testing, and overall access to care
• Multiple molecular diagnoses are made in over 7% of patients having WGS

We present a patient case report that highlights the complexities and implications of the evolving genomic medicine landscape.