The Genetics of Fragile X: Resources to Share

Missy Zolecki headshot
Missy Zolecki

03 mins read

For You and Your Healthcare Professionals

We often receive questions about the genetics of Fragile X, which is a complex topic! Fragile X is a group of conditions associated with alterations in the FMR1 gene, particularly in the number of CGG repeats. These alterations affect how the gene functions and identify the risk for Fragile X-associated conditions.

To help make sense of these complexities, we’ve developed a series of handouts covering a range of topics, including one specifically designed for healthcare professionals.

For Families & Individuals

Genetics of Fragile X Fact Sheet
1 pages,
Updated 04/15/2025
Learn and share how changes in the FMR1 gene happen, how Fragile X is inherited, and what CGG repeat ranges mean for individuals and families.
Genetic Counselors Fact Sheet
2 pages,
Updated 04/15/2025
Genetic counselors help individuals and families understand complex genetic information, interpret test results, and guide informed decision-making. This document outlines the role of a genetic counselor, the different types of genetic counselors, and when it may be helpful for you or your family to seek genetic counseling.
Genetic Testing for Fragile X FMR1-Associated Conditions Fact Sheet
2 pages,
Updated 04/15/2025
Genetic testing options are something you may discuss with your healthcare provider. It’s important to understand what each test can reveal, the potential risks, and how the results may impact you and your family. Everyone’s situation is unique, so having clear information can help you make informed decisions for yourself and your family.
Fragile X Premutation Fact Sheet
2 pages,
Updated 04/15/2025
The Fragile X premutation refers to an atypical expansion of the CGG sequence in the FMR1 gene, typically ranging from 55 to 200 repeats. This expansion is used as a risk identifier for Fragile X premutation-associated conditions. While Fragile X syndrome is considered a rare genetic condition, the premutation is not classified as rare. Ongoing research continues to explore additional health risks that may be linked to the FMR1 premutation.

For Professionals

Medical Coding for Fragile X FMR1-Associated Conditions For Professionals
1 pages,
Updated 04/15/2025
We have compiled a list of possible procedural, service, and diagnostic codes that might be used in your practice to order FMR1/Fragile X testing and/or provide a formal diagnosis.

We want to express our appreciation to Melanie Nettler, a genetic counseling student intern, for her assistance in creating the various flyers on the genetics of Fragile X. Melanie worked closely with the NFXF to develop educational resources that help clarify the complexities of FMR1 Fragile X genetics.

About the Author

Missy Zolecki

Missy joined NFXF team in 2018 after being an active volunteer since 2010. Missy organized several fundraisers and educational workshops while serving in her volunteer role. Missy is the mother of three children. Her eldest son, Matt, lives with Fragile X syndrome. Prior to joining the NFXF team, Missy had worked as a nurse for more than 20 years.