Newsletter 3/2012

New biomarker tests for lysosomal storage disorders available!


Dear ###USER_title1### ###USER_last_name###,

Centogene has established biomarker testing for the following lysosomal storage disorders:

Gaucher, Fabry and Niemann Pick types A, B and C

This important addition to our service portfolio is based on our collaboration with the University of Rostock (Prof. Arndt Rolfs). Dr. Rolfs is an expert in the diagnosis and treatment of lysosomal storage disorders with nearly 20 years experience in the field.

Lyso-Glucosylsphingosine for Gaucher´s disease (patent pending)

Lyso-Gb3 for Fabry´s disease (improved methodology)

NP 469/509 for Niemann Pick´s disease type A, B and C (patent pending)

These biomarkers

  • are metabolites involved in the pathological pathway, with a direct toxic effect
  • reflect the disease burden much more accurately than biomarkers whose synthesis are indirectly up regulated due to the accumulation of sphingolipid metabolites
  • have a sensitivity and specificity which overcomes classical limitations of other biomarkers for these diseases
  • have a much higher sensitivity and specificity than other classical biomarkers for these diseases
  • can be used perfectly to screen for affected patients
  • allow monitoring of diagnosed patients to decide the optimal titration of enzyme replacement therapies
  • be analyzed in plasma, serum as well as dried blood spots; dried blood spots allow convenient sample shipping and storage for a long time


If you want to test your patients and need filter cards, please contact us.

Please note: Our new website and test catalog contains many new biochemical and genetic tests in various disease areas.

Best regards,

Doreen Niemann
Senior Director Strategic Communication
Centogene AG


Centogene AG
Schillingallee 68
18057 Rostock


Responsible: Doreen Niemann
USt-IdNr.: DE813228872