Fragile X Syndrome is one of the most common genetic diseases. A fragile x premutation is present in approximately one in 150 women. However, to date, the condition was diagnosed only based on symptoms and family history. In a recent advance in diagnostic tests, the USFDA has approved a genetic diagnostic test to efficiently diagnose the condition in the affected persons and the carriers. The USFDA has recently approved a genetic test indicated to diagnose fragile X syndrome, which is one of the most common causes of developmental delay.
Individuals with fragile x syndrome present with developmental delays, learning disabilities, social and behavioral issues, intellectual disabilities, and an autism spectrum disorder. This genetic disorder is caused by changes in the FMR1 gene located on the X chromosome . The mutation is marked by high numbers of CGG repeats . The test measures the…
