Diagnosis of Achondroplasia

How is achondroplasia diagnosed?

Achondroplasia is diagnosed by characteristic clinical and X-ray findings in most affected individuals. In individuals who may be too young to make a diagnosis with certainty or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene.

Genetic testing can identify mutations in 99 percent of individuals who have achondroplasia. Testing for the FGFR3 gene mutation is available in clinical laboratories.

Source: NHGRI (NIH)1

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  1. Source: NHGRI (NIH): genome.gov/ 19517823/ learning-about-achondroplasia/ 

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