Broader Applicability of Rare Disease Biomarker

Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry

Biomarkers have the potential to serve numerous purposes (diagnosis, prognosis, monitoring, etc.) when well-characterized in large cohorts of patients and controls. Building on its rich source of rare disease samples, CENTOGENE actively supports pertinent efforts for known and novel biomarkers. A corresponding study addressing Gaucher disease was recently published in Diagnostics.


  • Filipa Curado
  • et al.