Tests and diagnosis

By Mayo Clinic Staff

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

  • A combination of medical problems or conditions suggesting DiGeorge syndrome
  • A heart defect, because certain heart defects are commonly associated with DiGeorge syndrome

In some cases, a child may have a combination of conditions that suggest DiGeorge 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.

Health care team

Because DiGeorge syndrome can result in so many problems, a number of specialists will likely be involved in diagnosing specific conditions, recommending treatments and providing care. This team will evolve as your child's needs change. Specialists in your care team may include these professionals, as needed:

  • Children's health specialist (pediatrician)
  • Expert in inherited disorders (geneticist)
  • Heart specialist (cardiologist)
  • Immune system specialist (immunologist)
  • Infectious disease specialist
  • Hormone disorder specialist (endocrinologist)
  • Surgeon who specializes in correcting such conditions as a cleft palate (oral and maxillofacial surgeon)
  • Surgeon who specializes in correcting heart defects (cardiovascular surgeon)
  • Other surgical specialists
  • Therapist who helps your child develop practical, everyday skills (occupational therapist)
  • Therapist who helps your child improve verbal skills and articulation (speech therapist)
  • Therapist who helps your child develop age-appropriate behaviors, social skills and interpersonal skills (developmental therapist)
  • Mental health professional, such as a pediatric psychologist or psychiatrist
June 07, 2017