Diagnosis

A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. Your doctor will likely order this test if your child has:

  • A combination of medical problems or conditions suggesting 22q11.2 deletion syndrome
  • A heart defect, because certain heart defects are commonly associated with 22q11.2 deletion syndrome

In some cases, a child may have a combination of conditions that suggest 22q11.2 deletion syndrome, but the lab test doesn't indicate a deletion in chromosome 22. Although these cases present a diagnostic challenge, the coordination of care to address all of the medical, developmental or behavioral problems will likely be similar.