Fragile X Syndrome near me in Bhubaneshwar
Understanding Fragile X Syndrome in Bhubaneshwar
What is Fragile X Syndrome in Bhubaneshwar?
The Fragile X Syndrome test is a comprehensive test for detecting Fragile X syndrome, the most common inherited cause of intellectual disability and autism spectrum disorder, by analyzing repeat expansions in the FMR1 gene.
Fragile X syndrome is a genetic disorder caused by a repeat expansion in the FMR1 gene, leading to intellectual and developmental disabilities. The disorder is the most common inherited cause of intellectual disability and autism spectrum disorder. This genetic test analyzes the FMR1 gene to detect mutations that disrupt the production of the fragile X mental retardation protein (FMRP), which is essential for normal brain development. Without adequate FMRP, the brain does not function properly, leading to the characteristic features of fragile X syndrome. Genetic testing typically involves analyzing DNA samples to identify specific mutations, offering precise and personalized information about an individual's genetic health.