For Families to Share with 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. These resources are valuable tools to share with your care team or anyone seeking a better understanding.
- Download the Genetics of Fragile X handout. The Genetics of Fragile X can be confusing. This resource explains how changes in the FMR1 gene happen, how Fragile X is inherited, and what CGG repeat ranges mean for individuals and families.
- Download the Genetic Counselors handout. 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.
- Download the Genetic Testing for FMR1/Fragile X handout. 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.
- Download the Fragile X Premutation handout. 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
Download the FMR1/Fragile X Codes handout. 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 would like 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.
Additional Resources
Below are the links to additional resources on our website. We encourage sharing these with your healthcare providers.
about
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. She enjoys traveling and spending time with family and friends.