Enzymes and Metabolic Biomarkers – 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.

The Features of CENTOGENE’s Biomarkers

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

Guiding individualized treatment regimen for improved outcomes

Usage Biochemical Testing

Enzyme activity and biomarker assays can be used for disease diagnosis and novel drug development validation. Enzymes and biochemical biomarker often represent key functions in physiological process. Therefore, they are a powerful tool to reveals early signs of diseases or to streamline disease progress.

General Usage of Biochemical Testing

  • Guide therapeutic regimes
  • At-risk cohort testing

To Achieve a Fast and Accurate Diagnosis We Are Offering:

CENTOGENE Diagnostics Biomarker Icon Biomaker
  • Follow-up monitoring
  • Measures disease progression and response to treatment
  • Differential diagnosis
CENTOGENE Diagnostics Biomarker Icon Computer Profile
Enzyme Panels

First step diagnosis of complex & multi-systemic metabolic diseases

CENTOGENE Diagnostics Biomarker Icon DNA Single
Biomarker/Enzyme + Single Gene Analysis
  • Suspected specific disorder
  • Clearly definable symptoms
  • For comprehensive treatment dicision making
CENTOGENE Diagnostics Biomarker Icon DNA Panels
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

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.




Biomarker Biomarker testing for pre or post diagnosis for the following diseases: Gaucher disease, Fabry disease, Niemann-Pick disease type A/B and type C, AADC deficiency.
Enzyme Enzyme activity testing for pre or post diagnosis for the following diseases: Gaucher disease, Fabry disease, Pompe disease, Hurler syndrome (MPS I), Hunter syndrome (MPS II), Maroteaux-Lamy syndrome (MPS VI), Morquio syndrome B (MPS IV B), Wolman disease, Sanfilippo syndrome B (MPS III B), Beta-mannosidosis, Fucosidosis, Sly syndrome (MPS VII), Tay-Sachs disease, Sandhoff disease, Schindler/Kanzaki disease, Santavuori-Haltia disease, Jansky-Bielschowsky disease

Multiomics Solutions

Genetic panel + biomarker / enzyme Testing a comprehensive range of genes first, followed by biochemical testing1 CentoMetabolic® MOx (~ 200 metabolic disorders)
Also available in combination with WES or WGS, and additional RNA-seq.
Fore more information please visit: Multiomic Solutions.

CENTOGENE’s Unique Expertise in Metabolic Disorders

DisordersTransforming 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.2,3,4 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.5 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.

Enzyme Assay


Disease Type

Detection Method


beta-glucocerebrosidase Gaucher disease LSD Fluorimetry GBA
alpha-galactosidase Fabry disease LSD Fluorimetry GLA
alpha-glucosidase Pompe disease LSD Fluorimetry GAA
alpha-L-iduronidase Hurler syndrome (MPS I) LSD Fluorimetry IDUA
iduronate-2-sulfatase Hunter syndrome (MPS II) LSD Fluorimetry IDS
arylsulfatase B Maroteaux-Lamy syndrome (MPS VI) LSD Fluorimetry ARSB
beta-galactosidase Morquio syndrome B (MPS IV B) LSD Tandem-MS GLB1
acid-lipase Wolman disease LSD Tandem-MS LIPA
alpha-N-acetylglucosaminidase Sanfilippo syndrome B (MPS III B) LSD Fluorimetry NAGLU
beta-mannosidase Beta-mannosidosis LSD Fluorimetry MANBA
alpha-fucosidase Fucosidosis LSD Fluorimetry FUCA1
beta-glucuronidase Sly syndrome (MPS VII) LSD Fluorimetry GUSB
beta-hexosaminidase Tay-Sachs disease LSD Fluorimetry HEXA
total-hexosaminidase Sandhoff disease LSD Fluorimetry HEXB
alpha-N-acetylgalactosaminidase Schindler/Kanzaki disease LSD Fluorimetry NAGA
palmitoyl-protein-thioesterase Santavuori-Haltia disease NCL Fluorimetry PPT1
tripeptidyl-peptidase Jansky-Bielschowsky disease NCL Fluorimetry TPP1

Metabolic Biomarker


Disease Type

Detection Method


glucosylsphingosine (lyso-Gb1) Gaucher disease LSD Tandem-MS GBA, PSAP
lyso-ceramide trihexoside (lyso-Gb3) Fabry disease LSD Tandem-MS GLA, PSAP


Niemann-Pick disease type A/B and type C LSD Tandem-MS SMPD1, NPC1, NPC2
3-O-methyldopa (3-OMD) AADC deficiency neurological Tandem-MS DDC

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)5. 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.5


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.


1 Biomarker/Enzyme testing complementary to support the classification of unknown and pathogenic variants.
2 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.
3 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.

4 Platt, Frances M., et al. „Lysosomal storage diseases.“ Nature Reviews Disease Primers 4.1 (2018): 1-25.
5 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.


Useful Links


CentoXome MOx Case Study Niemann Pick Disease

CentoXome MOx Diagnosed Niemann-Pick Disease Type C1

Demonstrating the power of CENTOGENE’s multiomic approach for a fast and conclusive diagnosis

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