Test Detail

Fragile X Syndrome-PCR

A fragile X PCR test detects changes in the FMR1 gene by analyzing the size of the CGG repeat region, which indicates whether a person has a normal, premutation, or full mutation state, and is used to diagnose Fragile X syndrome and identify carriers. The test involves extracting DNA from a blood sample, then using polymerase chain reaction (PCR) to amplify the repeat region, and finally analyzing the size of the amplified fragment to count the CGG repeats.