Biomarkers & Multiomics

Paving the Way to Personalized Therapies

Combining information from genomics, proteomics, and metabolomics to drive early diagnosis, prediction, and therapeutic monitoring.


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Accelerating Diagnoses and Guiding Treatment Options

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 diagnostic tool or in regular monitoring of the disease progression can be of high clinical value for the patients. Biomarkers can be used as a measure of the therapy efficacy and even as a guide for therapy dosage.

CENTOGENE offers rapid medical diagnosis of rare hereditary diseases through the broadest genetic testing portfolio combined with biomarker and enzymatic testing as well as best-in-class interpretation.

Why Choose CENTOGENE’s Biomarkers?

Early and accurate diagnosis

Monitoring response to treatment

Simplified logistics and analysis in dried blood spots (DBS) with CE-labeled filter card technology (CentoCard®)

High sensitivity and specificity

Short turnaround time

The Features 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

Testing Strategies - Fast and Accurate

In complex diseases and disease pathways, a genetic test alone typically can't provide the information needed for a final diagnosis. Therefore, CENTOGENE has pioneered the combination of different tests, like biomarker and multi-biomarker patterns with clear recommendations for testing strategies1. These testing strategies offer you and your patients a faster, more reliable, and more complete solution – providing vital and time-sensitive answers when they matter the most.

GENETIC PANEL + BIOMARKER / ENZYME Testing a comprehensive range of genes (panel) first, followed by biochemical testing1 CentoMetabolic® (~200 metabolic disorders)
For more info please visit
Other panels (then reflex to relevant biomarkers upon request)
ENZYME / BIOMARKER + SINGLE GENE ANALYSIS Biochemical testing combined with single gene testing Customized solutions in pharmaceutical collaborations
BIOMARKER Biomarker testing  (pre or post diagnosis)

Biomarkers for eight diseases including AADC deficiency, hereditary angioedema (HAE), Fabry disease, Farber disease, Gaucher disease, Gaucher disease atypical, Niemann-Pick disease (NPD) A/B, and NPD type C

More than 50 biomarkers in development

ENZYME PANELS Enzyme testing with optional reflex to genetics

Four enzyme panels:


Optional reflex to genetics (X-TRA2)

For details please go to and type ‚enzyme panel‘ in the search field.

When to Use It?

Genetic Panel + Biomarker/Enzyme

  • Suspected metabolic disorder
  • Complex, overlapping symptoms with broad differential diagnosis
  • Abnormal new-born screening results
  • Admission to a neonatal intensive care unit
  • Symptoms related to neurological conditions of unknown etymology
  • Overlapping symptoms with varying age of onset and severity

Enzyme/Biomarker + Single Gene Analysis

  • Suspected specific disorder
  • Clearly definable symptoms
  • Follow-up monitoring


  • Differential diagnosis
  • At-risk cohort testing, patient identification
  • Disease progression monitoring
  • Measure response to treatment
  • Guide therapeutic regimen
  • Follow-up monitoring

Enzyme Panels

At-risk cohort testing

CENTOGENE’s Unique Expertise in Metabolic Disorders

Transforming the Management of Metabolic Disorders

Metabolic diseases are a group of rare, inherited diseases characterized by abnormal accumulation of different metabolites in the cells, leading to impaired functioning of the affected cellular organells.

A further subgroup, Lysosomal storage disorders (LSDs), collectively affect 1 in 5,000 live births, with Fabry and Gaucher disease being the most prevalent.3,4,5 It is estimated that every 20 minutes a child is born with an inherited LSD.

CENTOGENE has developed multiple specific biomarkers for certain LSDs with therapeutic options. For example, Lyso-Gb1 has been identified as the most effective biomarker for Gaucher disease.6 All analyses can be done from dried blood spots with CentoCard® and help with the early diagnosis, as well as disease progression and therapeutic monitoring of a specific disorder in the most effective manner.

Glucosylsphingosine (Lyso-Gb1)* Gaucher disease GBA, PSAP Tandem-MS
Lyso-Ceramide trihexoside (Lyso-Gb3) Fabry disease GLA Tandem-MS


Niemann-Pick disease (A/B/C1/C2) SMPD1, NPC1, NPC2 Tandem-MS
C26-Ceramide Farber disease ASAH1 Tandem-MS

*A method using Lyso-Gb1 is covered by US Patent No. 10,859,580, other pending US applications, and pending applications and patents in other jurisdictions.

myLSDapp - Innovative Support for Gaucher Specialists

To further contribute to the transformation of Gaucher disease health care, CENTOGENE has developed an easy-to-use smartphone app – myLSDapp.

The app allows Gaucher patients and physicians to track and monitor the progress of treatment, using Lyso-Gb1 as a guideline.

  • Get a clear and simple overview of your patients´ biomarker results
  • Keep track of your patients’ quality of life
  • Transform healthcare for Gaucher


Success Story: Lyso-Gb1 as the Most Effective Biomarker for Gaucher Disease

Lyso-Gb1 has been identified as the most precise biomarker for Gaucher disease (GD)6. With a sensitivity and specificity of 100% (see below), it is the optimal biomarker for a sensitive and reliable diagnosis of GD. Evidence of patient data also proves that quantitation of this biomarker can serve as a direct indicator of disease burden and response to treatment for monitoring GD.6


100% sensitivity and 100% specificity of Lyso-Gb1 leading to highest accuracy in patient identification for an optimal diagnosis.


Lyso-Gb1 levels significantly and rapidly increase at time point t5 after a forced treatment break due to temporary unavailability of enzyme replacement therapy. Lyso-Gb1 thereby proves its superb capabilities for monitoring Gaucher disease.

Scientific Articles

Glucosylsphingosine Is a Reliable Response Biomarker
Read Now

Glucosylsphingosine is a Highly Sensitive and Specific Biomarker in Gaucher Disease
Read Now

How Multiomic approaches can end the diagnostic odyssey
Read Case Study

Successful Monitoring of Gaucher Disease
Read Now


1 Biomarker/Enzyme testing complementary to support the classification of unknown and pathogenic variants.
2 The enzyme panels listed above can be requested together with an automatic reflex to genetic testing if an enzyme deficiency is identified via CENTOGENE’s “Enzyme Panel X-TRA” option.

3 Wittmann, Judit, et al. „Newborn screening for lysosomal storage disorders in Hungary.“ JIMD Reports-Case and Research Reports, 2012/3. Springer, Berlin, Heidelberg, 2012. 117-125.
4 Burlina, Alberto B., et al. „Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.“ Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism 41.2 (2018): 209-219.

5 Platt, Frances M., et al. „Lysosomal storage diseases.“ Nature Reviews Disease Primers 4.1 (2018): 1-25.
6 Elstein, Deborah, et al. „Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.“ Molecular genetics and metabolism 122.1-2 (2017): 113-120.

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