Improving Diagnostic Options for Rare Diseases

Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

A diagnostic strategy for rare diseases based on a combination of standard laboratory parameters has long been sought after. To help advance this approach, CENTOGENE actively participates in corresponding research initiatives. Data from one such study, addressing Gaucher disease, was recently published in the International Journal of Clinical Practice.


  • Timothy M Reynolds
  • et al.