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Fragile X screening with HorizonTM

Fragile X syndrome is the most common inherited cause of intellectual disability. For some, fragile X causes a mild intellectual disability. For others, it can manifest as autism.


Carrier screening for fragile X can identify at-risk pregnancies and help diagnose unexplained carrier symptoms, like infertility. Horizon assesses fragile X risk more accurately than typical screens. Learn more in our webinar.

A Fresh Perspective on DNA

Catch a Sneak Peek of Vanessa’s Story

In this 2-minute video, Vanessa explains how she was able to have the big family she always dreamt of, even after learning that she is a carrier of fragile X.

“We knew each child I was going to have [could] have this same disorder. When we found out about PGT, it was a game changer. PGT gave us the dream of a big family back.”


View Our Webinar:
A Future to Shape: Shortening the Path to a Fragile X Diagnosis

Listen to Vanessa, whose first son was diagnosed with fragile X while she was pregnant with her second and went on to have three healthy sons, and Dr. Deby Barbouth, a geneticist who leads an interdisciplinary team focused on treating children with fragile X. They will discuss how carrier screening can shorten the path to diagnosis and inform later reproductive decisions.

  • Vanessa Chartouni-de la Serna, PhD
    Fragile X carrier and mother of 4 boys; Miami, FL
  • Deborah Barbouth, MD
    Pediatric geneticist at the South Florida Fragile X Clinic, University of Miami, FL

View Our Webinar:
A Chance to Process: Understanding How Fragile X Affects Families

Hear from Kerry, who faced a long journey to the diagnosis of her third child and now has helped identify carriers in her family, and Dr. Monica Dowling, a clinical psychologist who specializes in behavioral therapy for children affected by fragile X. They will discuss the impact fragile X can have on diagnosed children and their families.

  • Kerry Stedke
    Fragile X carrier and mother of 3 children, Lima, OH
  • Monica Dowling, PhD
    Child psychologist at the South Florida Fragile X Clinic, University of Miami

Learn More About Horizon

All carrier screening is not equal, and choosing the right test for your patients is critical. Horizon assesses fragile X risk more accurately than typical screens by including AGG reflex testing. Learn how Horizon leverages advanced technology and unmatched support to help you and your patients.

Learn more