Novel diagnostics for Rare Disorders: Fabry in females, presented at WorldSymposium

The parallel measurement of lyso-GL-3 (lyso-Gb3) for Fabry disease is of high importance particularly for potential female Fabry patients, otherwise women at risk might be missed and consequently be undiagnosed. We analyzed more than 5.000 Dried Blood Spot samples derived from women suspicious to Fabry disease with our certified IVD lyso-GL-3 assay.

Our data of this large cohort showed that without this routinely lyso-GL-3 testing for all women, we might miss up to 20% of females with Fabry disease if lyso-GL-3 testing is not performed.

Together with a second publication we presented these results at the 14th WorldSymposiumTM  on lysosomal diseases, 5th to 9th of February, in San Diego:

  • Importance of lyso-GL-3 (lyso-Gb3) for primary diagnostics of Fabry disease: two-year experience in a daily routine laboratory
    (PDF Download)
  • Clinical symptoms in patients suspicious to lysosomal storage disorders in Germany, Austria and Switzerland
    (PDF Download)

 

The WorldSymposiumTM  is taking place once a year and is designed, among others, for translational and clinical researchers, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.

The presentation of emerging trends, also including a new section on newborn screening for example, to follow an overall transition from ‘basic’ understanding, to clinical diagnosis and to ‘treatment’, delivers state-of-the-art knowledge for experts in that field.

 

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