Genetics

As part of your care, the genetics team may offer whole exome or whole genome sequencing. This is a type of testing that looks closely at genes to help find out if a genetic change may be causing a health condition. It can be offered to patients admitted to the hospital for critical care, as well as to patients seen in clinic. Watch Genetic Testing: What to Expect to learn more about this testing, and the patient consent video to understand the consent process.

The Network can help to connect you with doctors and specialists for treatment, answer questions you may have about your baby’s newborn screening results, and help you find resources in your area. The Network helps families with questions and concerns while follow-up testing is done following the initial newborn screen report (often called pre-diagnosis), and will check in at regular intervals after diagnosis to see how your family is doing and if you could benefit from any additional supports. 

The Down Syndrome Association of CT works to build intentionally inclusive communities and to provide resources and support for people with Down syndrome and their advocates.

The International 22q11.2 Foundation is a nonprofit organization dedicated to supporting individuals and families affected by chromosome 22q11.2 differences by raising awareness, advancing care, and driving research worldwide.

The Marfan Foundation offers information, support, and community for anyone affected by Marfan, Loeys-Dietz, Vascular Ehlers-Danlos syndrome, and related genetic aortic and vascular conditions, wherever you are in your journey.

NORD’s Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. You can also learn more about Rare Disease Day and find ways to get involved in events and activities.