How Do Doctors Diagnose 22q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome, or 22q11.2DS, can be diagnosed with a blood test to look for the deletion. It may be diagnosed with blood tests such as a DNA probe (FISH test), microarray or MLPA test.

How Do Doctors Treat 22q11.2DS?

There is no cure for 22q11.2DS. Treatment depends on your child’s symptoms and needs. The care team will talk with you to create a treatment plan for your child.

Common treatments can include:

  • Regular follow-up care for your child’s symptoms and needs to address health issues
  • Surgery, if needed

Which Tests Might My Child Have After Diagnosis?

Your child might have one or more of the following tests after diagnosis, depending on their needs and symptoms:

  • Echocardiogram and EKG (tests to check the heart’s rate and rhythm)
  • Kidney ultrasound
  • Testing of the immune system, thyroid, calcium levels, hearing and vision

Who Is On My Child's Care Team?

There are many people on your child’s care team, depending on their needs. Care team members can include:

Where Can I Learn More About 22Q11DS?

You can learn more about 22q11DS from:

Rev. 8/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treat any medical conditions.