Skip to main content

Patient Support Line 1-800-282-7630 Monday through Friday: 8:00 am – 8:00 pm ET

Image showing woman playing with her son. Text on image says “Diagnosis”
How is PROS diagnosed?

Your doctor may diagnose you with PIK3CA-Related Overgrowth Spectrum, or PROS, based on certain criteria, or by following a combination of steps, which can include—but are not limited to—the following:

Icon of two health care providers
Medical visit with a multidisciplinary team

A multidisciplinary team is a group of doctors with different specialties. You may have a medical visit with a multidisciplinary team to get a well-rounded assessment. This visit will also include a thorough medical exam to identify features that may lead to a PROS diagnosis.

Icon of notepad and pen
Assessment of when and how you first noticed the condition

Most people are born with their PROS condition, so they often have obvious signs and features at birth or develop them in early childhood. However, PROS conditions are not hereditary, meaning they are not passed down from parent to child.

Icon of a person getting an MRI
Scans that show what’s happening inside the body

Some PROS features may need to be imaged and scanned using different techniques, like magnetic resonance imaging, or MRI, or other scans, which can help determine whether your condition is a PROS condition.

Icon for lab test
Lab tests to find out if there is a somatic PIK3CA mutation

A somatic PIK3CA mutation is a mutation that is not passed down from parent to child. Because these mutations are somatic, genetic testing may not always show the presence of a PIK3CA mutation—even when one is present in the body. That’s why a PROS diagnosis may be made even when a PIK3CA mutation does not come up in the test results or a person does not get tested.