A patient can be confirmed as having an Intellectual Disability disorder linked to a genetic mutation through any one of the following genetic tests:
- Microarray analysis
- FISH analysis
- Exome sequencing
- Whole genome sequencing
If your child or family member has a confirmed diagnosis, your geneticist and online resources can typically identify if existing treatments, support groups, foundations or biotechnology companies exist that are serving that particular ID disorder. Once identified, you may wish to reach out directly to those involved for further assistance. If you are unable to identify any information sources, please contact us for assistance.
Families dealing with a potential Kleefstra syndrome diagnosis or a confirmed case can click here.