Conditions Screened

The GUARDIAN screen looks only at some genetic conditions. These conditions were specifically selected because they occur in childhood and there are things that you and your baby’s doctor can do to help to care for them. There are many other genetic conditions that are not included in this screen. Most health conditions that people develop in their lifetime are not included on this screen.

 

All of the GROUP 1 conditions have medicines or interventions that prevent or lessen the symptoms of the condition. Not all of these conditions can be cured with medicine, but early diagnosis and early treatment can help to give your baby the best chance to live a healthier life.

List of Conditions Screened For in Group 1

The condition list will appear in a new tab. Click here to see Group 1 conditions in a new tab.

Parents can also choose to have their baby screened for an additional 100 conditions (Group 2). There are no medicines to treat for these conditions yet. Medicines may be in development, although we don’t know how well they will work. Early diagnosis of these conditions can support you and your child with early intervention services including physical therapy, occupational therapy, and speech therapy. It may also allow your child to start treatment or interventions if or when they become available, as well as to be part of research studies investigating new treatments.

List of Conditions Screened For in Group 2

List of Conditions Screened For in Group 2 Click here to see Group 2 conditions in a new tab.

We are currently screening for version 2 of our gene list. Version 1 of the gene list (V1) was used from the start of the study until February 29th, 2024. Version 1 of the gene list can be found here.

What Happens After The Test?

The GUARDIAN study team will contact you with the results of your baby’s screen, share the results with your baby’s pediatrician, and put the results in your baby’s medical record.

Most babies will screen negative. This means there is a very low chance that your baby has the conditions in this screening. However, a small number of babies (about 3-4 in 100) will screen positive. If your baby screens positive, we will talk to you about the condition identified, any confirmatory testing that is needed to diagnose the condition, and our recommendations for follow up care.