Biomarker and Biochemical Testing

CentoGaucher, CentoFabry, CentoFarber and CentoNPC are the first CE-labeled test methods for exact measuring the biomarker in Gaucher, Fabry, Farber's disease as well as Niemann-Pick disease type C. They are developed as easy and fast screening techniques for measuring the biomarker levels in affected patients based on tandem mass spectrometry (MRM-MS).

Using the example of Gaucher disease, CentoGaucher measures the biomarker level of the lyso-glucosylsphingosine (lyso-Gb1) concentration in Gaucher patients. Lyso-Gb1 reflects perfectly the severity of the disease, correlates with the progress and reflects the extent of improvement once the patients are set on treatment.

Lyso-Gb1 demonstrates the highest sensitivity and specificity for diagnosis and monitoring of Gaucher disease (Rolfs et al. 2013). High lyso-Gb1 levels indicate a disease crisis. In this particular case, a bone crisis was present in 3/2015 and 7/2015. ▼

A significant increase of lyso-Gb1 level demonstrated that the dosage of the enzyme replacement therapy (ERT) had to be adjusted. After ERT adjustment, the lyso-Gb1 level decreased to an almost normal level.

CENTOGENE has developed targeted biomarker ID cards which allow the continuous documentation of lyso-Gb1 levels in your patients. Only regular monitoring of the lyso-Gb1 level (recommended each quarter) will ensure an effective dosage under enzyme replacement therapy in your Gaucher patients.