At the 22q and You Center, we have all the resources of The Children's Hospital of Philadelphia at our disposal. From diagnosis, evaluation and treatment to follow-up services and resources, we help families cope with the diagnosis of chromosome 22q11.2 deletion and learn how to help your child lead a happy and meaningful life.
Diagnosing your child
Physicians and researchers at CHOP have pioneered the FISH (fluorescence in situ hybridization) test — a highly accurate diagnostic blood test for the 22q11.2 deletion. Our team developed the FISH test in 1992. Since then, hundreds of children with this rare disorder have been diagnosed and treated at Children’s Hospital.
During the FISH test, our researchers are looking at factors that may influence how the deletion's effects, such as:
- Deletion size
- The parent of origin (the parent who passes along the deletion)
- Modifier genes
Evaluation and treatment
Once your child is diagnosed with a chromosome 22q11.2 deletion, we offer a comprehensive diagnostic evaluation that may include — over a three- to five-day period — consultation with healthcare professionals from as many as 15 subspecialties.
Because the number of necessary appointments can be overwhelming for you, our Center's staff coordinates them, depending on your child’s needs. We also help your family arrange travel and find a place to stay while your child is undergoing assessment. If your child’s condition warrants, we will schedule an admission at Children's Hospital.
Our staff can also help your family work with your insurance company to ensure your child receives the necessary tests and treatments.
Our center provides follow-up care for inpatients and outpatients, as well as genetic counseling.
Genetic services offer your family valuable information, including:
- Information about the cause of your child’s condition
- The chances of having another child with the same condition
- Information about your child’s prognosis
- Access to ongoing support and information resources
In addition, because an increasing number of children with this disorder are reaching adulthood and their reproductive years — with a 50 percent chance of passing the disorder on to their own children — we have arranged for patients over the age of 18 to be evaluated by the Adult Genetics Department at the Hospital of the University of Pennsylvania.
The "22q and You" Center also connects families and healthcare professionals with valuable resources, such as a parent support group, quarterly newsletter, videos and more.
The Center also serves as a resource for parents and healthcare providers worldwide, providing information and guidance about coping with the diagnosis and treatment of this condition. For instance, in 2003, our staff responded to more than 1,000 questions by phone, fax, e-mail and surface mail. Our current mailing list includes more than 2000 individuals and agencies spanning six continents.