Fragile-X, Chromo Analysis

What is the Fragile X Chromosome Analysis test?

This genetic test detects mutations in the FMR1 gene, which cause Fragile X syndrome—a leading cause of intellectual disability and autism spectrum disorders.


Who should get this test?

Individuals with developmental delays, learning disabilities, autism, or a family history of Fragile X syndrome may need this test. It is also recommended for carrier screening in women planning pregnancy.


How is the test performed?

A blood sample is taken, and DNA is analyzed using PCR or Southern blot techniques to detect CGG repeat expansions in the FMR1 gene.


What do the results indicate?

A normal result shows fewer than 45 CGG repeats. A premutation (55–200 repeats) indicates carrier status, while a full mutation (over 200 repeats) confirms Fragile X syndrome.


Can Fragile X syndrome be treated?

While there is no cure, early intervention, speech and behavioral therapy, and supportive care can improve quality of life.