Diagnosis Summary

PughA family’s first step in receiving a diagnosis for Kabuki will be through a clinical geneticist. Together with a clinical counsellor, they provide information about inheritance patterns, calculate risks of recurrence, and refer families to other appropriate health care professionals. They may also request appropriate testing to further verify a diagnosis.  As you have read in the Overview section, the discovery of altered KMT2D and KDM6A genesi in a percentage of individuals with Kabuki has now made it possible to verify a diagnosis for some. Continued research is needed. Due to the rapid advancement of genetic science, families and professionals may occasionally wish to visit this section to inform themselves of any new developments!