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Tests and diagnosis
By Mayo Clinic staffA 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
- Routes JM. Pulmonary complications of primary immunodeficiencies. In: Mason RJ, et al. Murray and Nadel's Textbook of Respiratory Medicine. 5th ed. Philadelphia, Pa.: Saunders Elsevier; 2010. http://www.mdconsult.com/das/book/body/192068760-2/0/1288/0.html. Accessed June 27, 2011.
- DiGeorge Syndrome. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/sec13/ch164/ch164h.html. Accessed June 27, 2011.
- Seroogy C. DiGeorge syndrome: Pathogenesis, epidemiology, and clinical manifestations. http://www.uptodate.com/home/index.html. Accessed June 27, 2011.
- Seroogy C. DiGeorge syndrome: Evaluation, diagnosis, and management. http://www.uptodate.com/home/index.html. Accessed June 27, 2011.
- Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome. Immunology and Allergy Clinics of North America. 2008;28:353.
- Buckley RH. Primary defects of cellular immunity. In: Kliegman RM. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed June 27, 2011.
- Chromosome 22. Genetics Home Reference. http://ghr.nlm.nih.gov/chromosome=22. Accessed June 27, 2011.
- Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews. 2008;14:3.
- Boyce TG (expert opinion). Mayo Clinic, Rochester, Minn. June 29, 2011.
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