Fabry Video Library

Watch a series of educational videos and case studies

Assoc Prof Thomas - High Risk Population Screening and Multidisciplinary Clinic
34:35

Testing & Diagnosis

Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1 The initial screening assay can be done by the suspecting specialist.

References

  1. 1.Germain DP. (2010) Fabry disease. Orphanet J Rare Dis 5: 30.