Fabry disease is likely to cause mortality in many female
carriers. The aim of this study was to develop an improved cost-effective
screening method that would be able to detect Fabry disease among female
newborns. Their study found
that the Agena iPLEX assay
is powerful for detecting females with Fabry disease. With this study, they
were able to detect many disease-onset adult family members who were originally
undiagnosed for Fabry disease and the screening for this study helped them to
receive treatment in time before severe and irreversible cardiac damage
occurred.
Link: here
Joanne
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