What Is Fragile X?
9. Diagnosis
Patient history and examination can provide many clues to the possibility of fragile X syndrome. Imaging should be performed for patients with fragile X syndrome to evaluate if there is any scoliosis while echocardiography can be used to exclude any issues of the heart. Both karyotyping and DNA testing in combination are recommended for those suspected of fragile X syndrome.
Although a DNA test is sufficient, karyotyping can be used to help reveal other chromosomal anomalies. A polymerase chain reaction (PCR) and Southern blot test are 2 methods of genetic analysis that can be used to detect the FMR1 gene. Developmental evaluation by a physical, occupational, and speech and language therapist is also recommended to identify where the patient may need help. Ophthalmology and auditory examinations are also recommended.
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