The expansion of CGG repeats and the methylation status of the FMR1 gene are used to diagnose Fragile X Syndrome and other related disorders (such as FXPOI or FXTAS) and to screen carriers for Fragile X syndrome.
Mutations over 200 CGG repeats result in DNA hypermethylation and non-production of FMRP protein. Males with such expansion have Fragile X symptoms, but women may or may not have the symptom or may be slightly affected.
Smaller expansions, or "premutations," are not hypermethylated and therefore do not cause Fragile X Syndrome, but they do convey an increased risk of Fragile X-associated Primary Ovarian Insufficiency (FXPOI) in women and Fragile X-associated Ataxia Syndrome (FXTAS) in men. In addition, due to possible instability in the transmission of premutated alleles, healthy women with alleles at the premutation range are considered at risk of having children affected with Fragile X Syndrome.
The LabGscanTM FRAXA PCR kit is an in vitro diagnostic test, based on PCR technology, for the amplification and detection of CGG repeats in the 5'-non-translated (5'-UTR) region of the FMR1 gene.
• Simpler and faster than Southern Blot
• From sample to result in 1 day
• Resolves female zygosity
• Expanded repeat peaks for full mutations• Can amplify greater than 200 repeats
Wild Type Woman Premutated Woman
Mutated Woman
