Biomarker – CentoGuard

CENTOGENE works alongside academic and industrial partners, as well as patient organizations, to develop new diagnostic assays and biomarkers that can help to diagnose and monitor diseases.

  1. Biomarker

Enabling diagnosis, prediction and therapy monitoring

Our biomarker portfolio enables you to:

  • Diagnose initially
  • Monitor constantly with adherence to

    • Realistic reflection of the burden of the disease
    • Solid basis to reflect therapeutic measures
    • Link to clinical manifestation
    • Easy and reliable quantification

CENTOGENE’s biomarkers

  • Easy analysis 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

Novel tandem mass spectrometry (MRM-MS)

  • Proven expertise in the identification of new biomarkers, validated in epidemiological clinical trials
  • Established tandem mass spectrometry (MRM-MS) based biomarker tests for Gaucher, Niemann-Pick type C, Fabry and Farber disease
  • Optimized and facilitated sample logistics with our CE-labeled filtercards, CentoCard®

Application of CENTOGENE’s CE-labeled biomarkers

CentoGaucher, CentoFabry, CentoFarber and CentoNPC are the first CE-labeled test methods for exact measuring of the biomarker in Gaucher, Fabry, Farber 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).


Latest scientific articles

  • Publications about genetic testing for metabolic disorders

    Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

    Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis,…

  • Publications about genetic testing for metabolic disorders

    GLB1-related disorders

    GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. GM1 gangliosidosis, also known as GLB1 deficiency, is estimated to occur in…

  • Publications about genetic testing for metabolic disorders

    Niemann-Pick disease, type C

    Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type C is due to variants in one of two different genes, NPC1 and NPC2. It is characterized by progressive neurodegeneration with an estimated…

Selected biomarker level

Lyso-Gb1 levels in Gaucher patients, Gaucher carriers and healthy controls

Lyso-Gb1 is specifically increased in Gaucher patients compared with healthy controls. The affected Gaucher patients can be clearly distinguished from the Gaucher carrier cohort and healthy control cohort.


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