Case Study: Simonetti Family uncovers a rare heart condition diagnosis with Labcorp genetic testing

Simonetti Family finds PPA2 diagnosis after 2 cardiac arrests with LabCorp

The Simonetti family faced a profound medical mystery when their toddler, Noah, suffered multiple sudden cardiac arrests. After initial genetic testing proved inconclusive, they sought answers from Labcorp, whose exome sequencing service was used to identify the root cause of his condition.

Labcorp's comprehensive exome sequencing test successfully diagnosed Noah with a rare PPA2 gene deficiency, a condition first described in 2016. This definitive result from Labcorp allowed the family to create a targeted care plan to protect Noah's health, prompted preventative genetic testing for 12 extended family members (10 of whom were found to be carriers), and enabled informed family planning for Noah's sibling. Armed with this knowledge, the family can now manage Noah's condition proactively, and he is thriving today.