Tests and diagnosis

By Mayo Clinic Staff

A diagnosis of DiGeorge syndrome is based primarily on a laboratory test that can detect the deletion in chromosome 22. Your doctor will likely order such a test if a combination of medical problems or conditions suggests DiGeorge syndrome.

Because certain heart defects are commonly associated with DiGeorge syndrome, the presence of the heart defect itself may prompt your doctor to order a laboratory test for a chromosome 22 deletion.

In some cases, a child may have a combination of conditions that suggest DiGeorge syndrome, but the laboratory 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 disorders, 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 the following professionals:

  • Children's health specialist (pediatrician)
  • Geneticist (expert in inherited disorders)
  • Heart specialist (cardiologist)
  • Immune system specialist (immunologist)
  • Infectious disease specialist
  • Hormone disorder specialist (endocrinologist)
  • Oral and maxillofacial surgeon, who specializes in surgery to correct such conditions as a cleft palate
  • Other surgical specialists
  • Occupational therapist, who specializes in therapy to help your child develop practical, everyday skills
  • Speech therapist
  • Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
  • Mental health professional, such as a pediatric psychologist or psychiatrist
Aug. 09, 2011