X FRAGILE SYNDROME
![ico-perche-fare-test-neuro](https://www.personalgenomics.it/en/wp-content/uploads/sites/2/2021/04/ico-perche-fare-test-neuro.png)
Why get tested?
The test is indicated by the specialist following a clinical suspicion of a hereditary disease characterized by mild-severe mental retardation, which can be associated with typical behavioral disturbances and physical signs.
![ico-cosa-vedono-test-neuro](https://www.personalgenomics.it/en/wp-content/uploads/sites/2/2021/04/ico-cosa-vedono-test-neuro.png)
What the test detects
The test allows the determination of the number of CGG triplets in FMR1.
![ico-cosa-producono-variazioni-neuro](https://www.personalgenomics.it/en/wp-content/uploads/sites/2/2021/04/ico-cosa-producono-variazioni-neuro.png)
What variants cause
An alteration in the number of CGG triplets in the FMR1 gene causes Fragile X Syndrome, a hereditary disease with X-linked transmission.
![ico-come-svolge-test-neuro](https://www.personalgenomics.it/en/wp-content/uploads/sites/2/2021/04/ico-come-svolge-test-neuro.png)
![ico-come-svolge-test-neuro-orizz](https://www.personalgenomics.it/en/wp-content/uploads/sites/2/2021/04/ico-come-svolge-test-neuro-orizz.png)
How testing works
The genetic test consists in performing a blood sample, in the extraction of genomic DNA and in determining the number of CGG triplets in the FMR1 gene.
![ico-tempi-refertazione-neuro](https://www.personalgenomics.it/en/wp-content/uploads/sites/2/2021/04/ico-tempi-refertazione-neuro.png)
Reporting time
Results in 15 working days.
![ico-affidabilita-neuro](https://www.personalgenomics.it/en/wp-content/uploads/sites/2/2021/04/ico-affidabilita-neuro.png)
Sensitivity and specificity
Analytical Sensitivity > 99% and Analytical Specificity of 98.4%.