Biomarker and biochemical testing
An ideal biomarker plays an essential role in the early diagnosis, prediction and therapeutic monitoring of a specific disease, reflecting the burden of the disease for the patients.
Using a biomarker either as a diagnosis tool for lysosomal storage diseases, or in regular monitoring of the disease progression, can be of high clinical value for the patients. Biomarkers bring rationality in the treatment of patients with rare diseases, and can be used as a measure of the therapy efficacy and even as a guide for therapy dosage.
Biomarkers transform the management of lysosomal storage disorders (LSD)
CENTOGENE's biomarker pipeline, CentoGuard, reflects the increasing demand for highly sensitive, superior biomarkers for individual therapy monitoring in the orphan drug market.
Benefits of CENTOGENE’s biomarkers
- Easy to be analyzed using DBS (dried blood spots) technology
- Linked to clinical manifestation
- Quantify easily and reliably in clinical samples
- Reflect realistically the burden of the disease
- Elucidate the molecular pathogenesis of the disease
- Reflect the therapeutic measure outcomes
Tandem mass-spectrometry (MRM-MS) technology
- Proven expertise in the identification of new biomarkers, validated in epidemiological clinical trials
- Established MS-based biomarker tests for Gaucher, Niemann-Pick disease type C, Fabry and Farber's disease
- Optimized and facilitated sample logistics with our CE-labeled filter cards, CentoCard®
Downloads for biomarker and biochemical testing
CENTOGENE works alongside academic and industrial partners, as well as patient organizations to develop new diagnostic assays and biomarkers that can improve the condition and prospects of patients affected by lysosomal storage disorders.
Application of CENTOGENE’s CE-labeled biomarkers
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.
Latest scientific articles
CentoAcademy® - High-throughput genetic and biochemical analyses of lysosomal storage disorders master course October 16-18, 2017
Gaining deep insights about using genetics and targeted mass spectrometry to detect patients suffering from lysosomal storage diseases and benefit from experiences via hands-on courses supervised by our experts.
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease
The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry…
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). We found one homozygous nucleotide change in intron 12 of the MUT gene (c.2125-3 C > G).