Fragile X Genetic Testing

Fragile X Genetic Testing

Genetic testing for Fragile X syndrome became much more accurate once the specific gene responsible for causing the syndrome, FMR1 was identified. This was then able to replace the chromosome genetic testing which had been the norm before this. 

This new genetic test, known as either the FMR1 DNA test, or the Fragile X DNA test has an accepted accuracy of more than 99%. It is able to identify both those with the syndrome, and those who are carriers for the FMR1 gene mutation. 


Genetic testing may be recommended for someone is showing potential symptoms of Fragile X syndrome. These might include developmental delay, specific facial features – a long and narrow face, large ears, soft skin -, and other diagnosis such as autism spectrum disorder. 

Symptoms may vary widely between individuals suspected to have Fragile X – and may vary from mild to moderate. Diagnosing the syndrome on suspected symptoms alone is not accurate enough. 

A family medical history of Fragile X syndrome will be a direct cause for genetic testing for the gene mutation. At the same time a consistent pattern of other symptoms related to the syndrome in the family, including intellectual disability, learning disabilities, autism spectrum disorder or infertility, are also enough to trigger genetic testing for the syndrome. 

If someone in the family is a known carrier of the FMR1 gene mutation. 

Fragile X  and genetic counseling

Genetic counseling is an important and crucial part of the genetic testing and diagnosis process for this syndrome. 

Genetic counseling for Fragile X can help identify if an individual should undergo genetic testing for the rare disease – based on their symptoms (including Fragile X facial features), medical history, and their family medical and genetic history.

Genetic counseling can explain the genetic testing process, including what it will entail, and what results it can be expected to give. Genetic counseling can also interpret the results of this testing. The test must be ordered by a genetic counselor or geneticist. This test will usually involve a blood draw. 

As importantly genetic counseling will help patients and families learn how to live with and manage the symptoms of a rare disease. They will help coordinate the different medical teams responsible for the care involved in managing multi-system disorders.


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