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.
What the test detects
The test allows the determination of the number of CGG triplets in FMR1.
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.
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.
Results in 15 working days.
Sensitivity and specificity
Analytical Sensitivity > 99% and Analytical Specificity of 98.4%.