Fragile X testing, analysis, and diagnosis are complicated subjects. Consult with a qualified healthcare provider and genetic counselor for guidance.
Please note: An important goal of the NFXF is to provide general education about the inheritance pattern and features of Fragile X-associated conditions. The NFXF does not intend this information to serve as medical advice. Individuals and families living with Fragile X-associated conditions and disorders should discuss their specific situations, including questions about laboratory results, symptoms, and treatments, with qualified healthcare providers. Given the complexity of Fragile X genetics, it is highly recommended that individuals consult with a genetic counselor or medical geneticist for specific guidance about laboratory testing and results, including the meaning of these findings for family members.
The following is information and resources about genetic testing to share with your healthcare and genetic counseling providers to help guide your discussion.
- https://fragilex.org/fx/testing-diagnosis/
- https://fragilex.org/genetics-testing/genetics-of-fragile-resources/
- https://fragilex.org/fx/testing-diagnosis/genetic-counseling/
- https://fragilex.org/fx/genetics-inheritance/
- https://fragilex.org/fx/testing-diagnosis/intermediate-result/
- https://fragilex.org/fx/genetics-inheritance/gray-zone-alleles/
- https://fragilex.org/fx/genetics-inheritance/methylation/
- https://fragilex.org/fx/genetics-inheritance/agg-interruptions/
- https://fragilex.org/resources/treatment/mosaicism/
Questions? Contact the NFXF Team: https://fragilex.org/contact/