Genetic testing for COFS syndrome

Your genetic counseling appointment to explore testing options is free, and more than 90% of families pay $0 out of pocket for testing.

See if my child qualifies

“When your child has multiple diagnoses, it’s natural to ask why?”

Vanessa, medical mom

How old is your child?

Start your free symptom assessment

Learn quickly if insurance billed genetic testing is an option

Connect with a board-certified genetic counselor from home, in days not months. Probably Genetic covers your appointment cost entirely.

Confirm eligibility

Confirm eligibility for genetic testing

Complete the symptom questionnaire.

Meet with a genetic counselor

Meet with a genetic counselor

Review genetic testing options.

Complete the test at home

Complete the test at home

The testing kit is an easy cheek swab.

See if my child qualifies

Why genetic testing is helpful for children with COFS syndrome

There are thousands of genetic diseases, and many look alike. Finding the specific gene mutation causing a patient’s symptoms is like finding a needle in a haystack, and it’s what lets doctors make a firm diagnosis.

 

Finding a clear diagnoses for the child can:

  • Give doctors more information, which can lead to improved treatment or targeted therapies
  • Lift the emotional burden of parents wondering if they did something wrong
  • Lead to improved care for other family members

 

Source: Children’s Hospital of Philadelphia (CHOP)

See if testing can help

What families tell us

“After I received my results from Probably Genetic, my doctor suddenly began running all sorts of tests, asking all kinds of questions, things I had told him but he never heard. So THANK YOU. It led to breakthroughs and actions from my doctors that would have never happened without you.”

Kellie E

Probably Genetic patient

“We've been searching for answers for over a decade and I'd almost given up. I'm so grateful that Probably Genetic has taken it upon themselves to make this kind of potentially life-altering testing accessible to families like mine.”

Rob

Probably Genetic patient