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How Is the Disorder Diagnosed?
The bones in people with fibrous dysplasia have a characteristic appearance on x rays, which is usually sufficient to make the diagnosis. Other imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) may also be indicated. In some cases, a doctor may need to obtain a small bone specimen (a biopsy) to confirm the diagnosis. The usefulness of gene testing is not clear. Since the mutated gene is only present in fibrous dysplasia tissues, it is best to test only the DNA from affected tissue, but even then, doctors do not know with certainty how useful such a test is.