At the Williams Syndrome Center your child will be evaluated by a team of physicians experienced in the diagnosis and care of children with Williams syndrome to determine if your child has Williams syndrome.
Evaluation for the diagnosis of Williams syndrome, may involve:
- A physical exam looking closely for features of the condition
- A through investigation of the child’s blood vessels, often with an echocardiogram (similar to the ultrasound used to look at a baby during pregnancy) and an EKG.
- A DNA test to check for the missing genes because Williams syndrome is caused by 26-28 missing genes in a small region on one of the child’s chromosomes. Two different types of testing are available for Willams syndrome. Both tests involve analysis of a small amount of blood from your child.
- A FISH test is one of the quickest ways to diagnose the condition. It uses a fluorescent marker to determine if the genes critical to Williams syndrome are present or not.
- A chromosomal microarray uses millions of markers to determine if there are missing pieces or extra pieces of DNA anywhere in the person’s chromosomes. This test is slower but gives more information about how big the missing piece is that may affect how severe the child’s condition will be.