Uniparental disomy mysteries: How chromosomal microarray and exome sequencing can provide UPD clues that influence the diagnostic odyssey

Presenting Author: Lana Sheta

Take home points: 

• Three cases demonstrate the multiple mechanisms by which UPD is implicated in disease
• For clinicians navigating a diagnostic odyssey, it is important to understand the limitations of commonly ordered tests in detecting UPD, to understand the clinical significance of UPD, and to recognize the implications this has for test utilization management.