Roberts syndrome

Diagnosis and Testing

How do I get tested for Roberts syndrome?

If a diagnosis of Roberts syndrome is suspected, a genetics doctor can order genetic testing. This can confirm a diagnosis. The test looks for changes in a person's genetic instructions. Changes or missing pieces of instructions can cause the body to grow or develop differently than expected.

You can find a genetic counselor in your area by looking at the website of the National Society of Genetic Counselors: http://nsgc.org/p/cm/ld/fid=164

Gordillo M., Vega H., Jabs E. Roberts Syndrome. 2006 Apr 18 [Updated 2013 Nov 14]. http://www.ncbi.nlm.nih.gov/books/NBK1153/

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