Fragile X (FMR1) CGG Repeat Analysis Test

This test is done to diagnose Fragile X syndrome.

This test is offered to children with development delays, learning disabilities, social & behavioural disorders.

Test determines CGG repeats in the FMR1 gene to diagnose Fragile X syndrome (FXS). Triplet repeat primed PCR (TP-PCR) is used to detect presence or absence of pathogenically expanded allele and hence determines Premutation (Carrier state) and Full mutation (Affected) in the individual.

The FMR1 gene makes a protein called FMRP which is needed for brain development and due to the genetic defect the protein is not produced resulting in development delay, learning, social & behavioural disorders in child.