Testing & Diagnosis for Velo-Cardio-Facial Syndrome (VCFS) in Children

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Evaluation and diagnosis of velo-cardio-facial syndrome (VCFS) is performed by a team of specialists  from various programs at Boston Children’s Hospital, including the Cardiac Neurodevelopmental Program, CardiologyDevelopmental Medicine Center, Genetics, Neurology, and Psychiatry. Using a multidisciplinary approach allows us to gain a better understanding of your child’s specific medical concerns. 

How is velo-cardio-facial syndrome diagnosed?

Genetic tests are used to diagnose VCFS, but the following tests may also be performed to rule out or identify problems associated with VCFS:

These can include tests of organ systems, such as:

  • Cardiac ultrasound (echocardiogram) to detect heart problems
  • Kidney ultrasound to detect kidney abnormalities
  • X-rays to evaluate the musculoskeletal system
  • Blood tests to evaluate calcium levels and immune system
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- Sandra L. Fenwick, President and CEO

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