When Symptoms Don’t Make Sense: The Power of Diagnostic Tools for Identifying Dual Diagnoses

The diagnostic odyssey is common in individuals with genetic disease, requiring them to see an average of 8 physicians and spend an average of $19K on less informative testing over 5-7 years, receiving 2-3 misdiagnoses along the way. Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) are powerful clinical tools when patients present with unusual phenotypes or incongruent symptoms for a specific genetic disease. Between 2 to 7% of individuals with genetic conditions have a dual diagnosis on exome sequencing. Here we present a case series of individuals with dual diagnoses of more than one
genetic disease using these tests.