The test is proposed to determine carrier status in relatives of affected individuals and in the partner of those who have been found to be carriers for family planning purposes.
What the test detects
The test allows to determine the number of CGG triplets in the FMR1 gene.
What variants cause
An altered number of triplets produce Fragile X Syndrome, which is an inherited disease characterized by mild-severe mental retardation, which can be associated with behavioral disorders and typical physical signs.
How testing works
The genetic test consists of performing a blood sample, extracting genomic DNA and determining the number of CGG triplets in the FMR1 gene using the AmplideX® FMR1 PCR kit.
Results in 15 working days.
Sensitivity and specificity
Analytical sensitivity > 99% and analytical specificity 98,4%.