Getting a diagnosis of a rare genetic disorder for your loved one can be overwhelming, and it can be even more confusing when there is diagnostic uncertainty reported in your child’s test results. In this recorded webinar, Dr. Bianca Russell, a clinical geneticist and leading expert in ASXL-related disorders, explains what it means when your child’s report says “variant of uncertain significance (VUS)” or “likely pathogenic variant.” She will discuss why variants may be unclear, the evolving naming structure of ASXL-related disorders, and what your child’s current diagnosis means in terms of finding where you and your family fit in the ASXL-related disorders community.
Dr. Russell also leads the primary clinical research study for ASXL-related disorders, the ASXL-Related Disorders Natural History Study.
Published: March 2025
The information presented here is for educational purposes only. This information is not medical advice and should not be treated as such. You should always talk to your or your family member’s health care professionals for diagnosis and treatment, including information regarding which drugs or treatment may be appropriate for you or your family member. We do not represent or warrant that any particular treatment is safe, appropriate or effective for you or your family member. In the event of a medical emergency, you should contact your doctor immediately or call your local emergency service.
