Welcome to “No More Southern Blots”, an educational website
dedicated to informing healthcare professionals, affected families, and other
interested individuals about the latest advances in molecular testing for aberrations
in the fragile X (FMR1) gene. The advent of new technologies to investigate the FMR1
gene promises improved screening and diagnostics, with the benefits of greater accuracy,
superior analytical sensitivity, improved quantification capabilities, faster throughput,
and higher resolution genotyping. As a result, these innovations will greatly enhance
FMR1 molecular diagnostic tests, help enable routine carrier screening, improve our
understanding of the risk of repeat expansion from parent to child, and provide more
flexible and insightful analyses of research and clinical samples with implications
for new generations of fragile X therapies and treatments.
Current technologies and new advances in CGG repeat quantification and categorization...
Reclassification of FMR1         expansion risk: The role of AGG Interruptions...
FMR1 Methylation PCR – eliminating the need for Southern Blot testing ...
FMR1 carrier screening – the     how, the why and the when ...